SNP Links for Protein (Select 86439957) - SNP

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Links from Protein

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Select item 14877595711.

rs1487759571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:93219273 (GRCh38)
7:92848586 (GRCh37)
Canonical SPDI:: NC_000007.14:93219272:C:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93219273C>A, NC_000007.13:g.92848586C>A, NG_051957.1:g.17926G>T, NM_198151.4:c.222G>T, NM_198151.3:c.222G>T, NM_198151.2:c.222G>T, NM_198151.1:c.222G>T, NM_001039372.4:c.258G>T, NM_001039372.3:c.258G>T, NM_001039372.2:c.258G>T, NM_001039372.1:c.258G>T, NM_001288804.3:c.327G>T, NM_001288804.2:c.327G>T, NM_001288804.1:c.327G>T, NM_001288810.3:c.222G>T, NM_001288810.2:c.222G>T, NM_001288810.1:c.222G>T, NM_001346642.2:c.33G>T, NM_001346642.1:c.33G>T, XM_011516001.3:c.33G>T, XM_011516001.2:c.33G>T, XM_011516001.1:c.33G>T, NP_937794.1:p.Lys74Asn, NP_001034461.1:p.Lys86Asn, NP_001275733.1:p.Lys109Asn, NP_001275739.1:p.Lys74Asn, NP_001333571.1:p.Lys11Asn, XP_011514303.1:p.Lys11Asn

Select item 14855039542.

rs1485503954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:93197561 (GRCh38)
7:92826874 (GRCh37)
Canonical SPDI:: NC_000007.14:93197560:A:G
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.93197561A>G, NC_000007.13:g.92826874A>G, NG_051957.1:g.39638T>C, NM_198151.4:c.1026T>C, NM_198151.3:c.1026T>C, NM_198151.2:c.1026T>C, NM_198151.1:c.1026T>C, NM_001039372.4:c.1062T>C, NM_001039372.3:c.1062T>C, NM_001039372.2:c.1062T>C, NM_001039372.1:c.1062T>C, NM_001288804.3:c.1131T>C, NM_001288804.2:c.1131T>C, NM_001288804.1:c.1131T>C, NM_001288810.3:c.1026T>C, NM_001288810.2:c.1026T>C, NM_001288810.1:c.1026T>C, NM_001346642.2:c.837T>C, NM_001346642.1:c.837T>C, XM_011516001.3:c.837T>C, XM_011516001.2:c.837T>C, XM_011516001.1:c.837T>C

Select item 14848803413.

rs1484880341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:93208693 (GRCh38)
7:92838006 (GRCh37)
Canonical SPDI:: NC_000007.14:93208692:T:G
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.93208693T>G, NC_000007.13:g.92838006T>G, NG_051957.1:g.28506A>C, NM_198151.4:c.863A>C, NM_198151.3:c.863A>C, NM_198151.2:c.863A>C, NM_198151.1:c.863A>C, NM_001039372.4:c.899A>C, NM_001039372.3:c.899A>C, NM_001039372.2:c.899A>C, NM_001039372.1:c.899A>C, NM_001288804.3:c.968A>C, NM_001288804.2:c.968A>C, NM_001288804.1:c.968A>C, NM_001288810.3:c.863A>C, NM_001288810.2:c.863A>C, NM_001288810.1:c.863A>C, NM_001346642.2:c.674A>C, NM_001346642.1:c.674A>C, XM_011516001.3:c.674A>C, XM_011516001.2:c.674A>C, XM_011516001.1:c.674A>C, NP_937794.1:p.Glu288Ala, NP_001034461.1:p.Glu300Ala, NP_001275733.1:p.Glu323Ala, NP_001275739.1:p.Glu288Ala, NP_001333571.1:p.Glu225Ala, XP_011514303.1:p.Glu225Ala

Select item 14848695364.

rs1484869536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:93195838 (GRCh38)
7:92825151 (GRCh37)
Canonical SPDI:: NC_000007.14:93195837:C:A,NC_000007.14:93195837:C:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93195838C>A, NC_000007.14:g.93195838C>T, NC_000007.13:g.92825151C>A, NC_000007.13:g.92825151C>T, NG_051957.1:g.41361G>T, NG_051957.1:g.41361G>A, NM_198151.4:c.1229G>T, NM_198151.4:c.1229G>A, NM_198151.3:c.1229G>T, NM_198151.3:c.1229G>A, NM_198151.2:c.1229G>T, NM_198151.2:c.1229G>A, NM_198151.1:c.1229G>T, NM_198151.1:c.1229G>A, NM_001039372.4:c.1265G>T, NM_001039372.4:c.1265G>A, NM_001039372.3:c.1265G>T, NM_001039372.3:c.1265G>A, NM_001039372.2:c.1265G>T, NM_001039372.2:c.1265G>A, NM_001039372.1:c.1265G>T, NM_001039372.1:c.1265G>A, NM_001288804.3:c.1334G>T, NM_001288804.3:c.1334G>A, NM_001288804.2:c.1334G>T, NM_001288804.2:c.1334G>A, NM_001288804.1:c.1334G>T, NM_001288804.1:c.1334G>A, NM_001288810.3:c.1204G>T, NM_001288810.3:c.1204G>A, NM_001288810.2:c.1204G>T, NM_001288810.2:c.1204G>A, NM_001288810.1:c.1204G>T, NM_001288810.1:c.1204G>A, NM_001346642.2:c.1040G>T, NM_001346642.2:c.1040G>A, NM_001346642.1:c.1040G>T, NM_001346642.1:c.1040G>A, XM_011516001.3:c.1040G>T, XM_011516001.3:c.1040G>A, XM_011516001.2:c.1040G>T, XM_011516001.2:c.1040G>A, XM_011516001.1:c.1040G>T, XM_011516001.1:c.1040G>A, NP_937794.1:p.Gly410Val, NP_937794.1:p.Gly410Asp, NP_001034461.1:p.Gly422Val, NP_001034461.1:p.Gly422Asp, NP_001275733.1:p.Gly445Val, NP_001275733.1:p.Gly445Asp, NP_001275739.1:p.Val402Leu, NP_001275739.1:p.Val402Met, NP_001333571.1:p.Gly347Val, NP_001333571.1:p.Gly347Asp, XP_011514303.1:p.Gly347Val, XP_011514303.1:p.Gly347Asp

Select item 14847492125.

rs1484749212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:93215523 (GRCh38)
7:92844836 (GRCh37)
Canonical SPDI:: NC_000007.14:93215522:G:C
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93215523G>C, NC_000007.13:g.92844836G>C, NG_051957.1:g.21676C>G, NM_198151.4:c.557C>G, NM_198151.3:c.557C>G, NM_198151.2:c.557C>G, NM_198151.1:c.557C>G, NM_001039372.4:c.593C>G, NM_001039372.3:c.593C>G, NM_001039372.2:c.593C>G, NM_001039372.1:c.593C>G, NM_001288804.3:c.662C>G, NM_001288804.2:c.662C>G, NM_001288804.1:c.662C>G, NM_001288810.3:c.557C>G, NM_001288810.2:c.557C>G, NM_001288810.1:c.557C>G, NM_001346642.2:c.368C>G, NM_001346642.1:c.368C>G, XM_011516001.3:c.368C>G, XM_011516001.2:c.368C>G, XM_011516001.1:c.368C>G, NP_937794.1:p.Ser186Cys, NP_001034461.1:p.Ser198Cys, NP_001275733.1:p.Ser221Cys, NP_001275739.1:p.Ser186Cys, NP_001333571.1:p.Ser123Cys, XP_011514303.1:p.Ser123Cys

Select item 14844890856.

rs1484489085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93208808 (GRCh38)
7:92838121 (GRCh37)
Canonical SPDI:: NC_000007.14:93208807:G:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000007.14:g.93208808G>A, NC_000007.13:g.92838121G>A, NG_051957.1:g.28391C>T, NM_198151.4:c.748C>T, NM_198151.3:c.748C>T, NM_198151.2:c.748C>T, NM_198151.1:c.748C>T, NM_001039372.4:c.784C>T, NM_001039372.3:c.784C>T, NM_001039372.2:c.784C>T, NM_001039372.1:c.784C>T, NM_001288804.3:c.853C>T, NM_001288804.2:c.853C>T, NM_001288804.1:c.853C>T, NM_001288810.3:c.748C>T, NM_001288810.2:c.748C>T, NM_001288810.1:c.748C>T, NM_001346642.2:c.559C>T, NM_001346642.1:c.559C>T, XM_011516001.3:c.559C>T, XM_011516001.2:c.559C>T, XM_011516001.1:c.559C>T, NP_937794.1:p.Leu250Phe, NP_001034461.1:p.Leu262Phe, NP_001275733.1:p.Leu285Phe, NP_001275739.1:p.Leu250Phe, NP_001333571.1:p.Leu187Phe, XP_011514303.1:p.Leu187Phe

Select item 14839256527.

rs1483925652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:93219436 (GRCh38)
7:92848749 (GRCh37)
Canonical SPDI:: NC_000007.14:93219435:A:G
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.93219436A>G, NC_000007.13:g.92848749A>G, NG_051957.1:g.17763T>C, NM_198151.4:c.59T>C, NM_198151.3:c.59T>C, NM_198151.2:c.59T>C, NM_198151.1:c.59T>C, NM_001039372.4:c.95T>C, NM_001039372.3:c.95T>C, NM_001039372.2:c.95T>C, NM_001039372.1:c.95T>C, NM_001288804.3:c.164T>C, NM_001288804.2:c.164T>C, NM_001288804.1:c.164T>C, NM_001288810.3:c.59T>C, NM_001288810.2:c.59T>C, NM_001288810.1:c.59T>C, NM_001346642.2:c.-131T>C, NM_001346642.1:c.-131T>C, XM_011516001.3:c.-131T>C, XM_011516001.2:c.-131T>C, XM_011516001.1:c.-131T>C, NP_937794.1:p.Leu20Pro, NP_001034461.1:p.Leu32Pro, NP_001275733.1:p.Leu55Pro, NP_001275739.1:p.Leu20Pro

Select item 14823996138.

rs1482399613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93197262 (GRCh38)
7:92826575 (GRCh37)
Canonical SPDI:: NC_000007.14:93197261:T:C
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.93197262T>C, NC_000007.13:g.92826575T>C, NG_051957.1:g.39937A>G, NM_198151.4:c.1144A>G, NM_198151.3:c.1144A>G, NM_198151.2:c.1144A>G, NM_198151.1:c.1144A>G, NM_001039372.4:c.1180A>G, NM_001039372.3:c.1180A>G, NM_001039372.2:c.1180A>G, NM_001039372.1:c.1180A>G, NM_001288804.3:c.1249A>G, NM_001288804.2:c.1249A>G, NM_001288804.1:c.1249A>G, NM_001288810.3:c.1119A>G, NM_001288810.2:c.1119A>G, NM_001288810.1:c.1119A>G, NM_001346642.2:c.955A>G, NM_001346642.1:c.955A>G, XM_011516001.3:c.955A>G, XM_011516001.2:c.955A>G, XM_011516001.1:c.955A>G, NP_937794.1:p.Arg382Gly, NP_001034461.1:p.Arg394Gly, NP_001275733.1:p.Arg417Gly, NP_001333571.1:p.Arg319Gly, XP_011514303.1:p.Arg319Gly

Select item 14822367899.

rs1482236789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:93192255 (GRCh38)
7:92821568 (GRCh37)
Canonical SPDI:: NC_000007.14:93192254:C:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93192255C>T, NC_000007.13:g.92821568C>T, NG_051957.1:g.44944G>A, NM_198151.4:c.1348G>A, NM_198151.3:c.1348G>A, NM_198151.2:c.1348G>A, NM_198151.1:c.1348G>A, NM_001039372.4:c.1384G>A, NM_001039372.3:c.1384G>A, NM_001039372.2:c.1384G>A, NM_001039372.1:c.1384G>A, NM_001288804.3:c.1453G>A, NM_001288804.2:c.1453G>A, NM_001288804.1:c.1453G>A, NM_001288810.3:c.1323G>A, NM_001288810.2:c.1323G>A, NM_001288810.1:c.1323G>A, NM_001346642.2:c.1159G>A, NM_001346642.1:c.1159G>A, XM_011516001.3:c.1159G>A, XM_011516001.2:c.1159G>A, XM_011516001.1:c.1159G>A, NP_937794.1:p.Glu450Lys, NP_001034461.1:p.Glu462Lys, NP_001275733.1:p.Glu485Lys, NP_001333571.1:p.Glu387Lys, XP_011514303.1:p.Glu387Lys

Select item 148073663010.

rs1480736630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:93197278 (GRCh38)
7:92826591 (GRCh37)
Canonical SPDI:: NC_000007.14:93197277:C:G,NC_000007.14:93197277:C:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.93197278C>G, NC_000007.14:g.93197278C>T, NC_000007.13:g.92826591C>G, NC_000007.13:g.92826591C>T, NG_051957.1:g.39921G>C, NG_051957.1:g.39921G>A, NM_198151.4:c.1128G>C, NM_198151.4:c.1128G>A, NM_198151.3:c.1128G>C, NM_198151.3:c.1128G>A, NM_198151.2:c.1128G>C, NM_198151.2:c.1128G>A, NM_198151.1:c.1128G>C, NM_198151.1:c.1128G>A, NM_001039372.4:c.1164G>C, NM_001039372.4:c.1164G>A, NM_001039372.3:c.1164G>C, NM_001039372.3:c.1164G>A, NM_001039372.2:c.1164G>C, NM_001039372.2:c.1164G>A, NM_001039372.1:c.1164G>C, NM_001039372.1:c.1164G>A, NM_001288804.3:c.1233G>C, NM_001288804.3:c.1233G>A, NM_001288804.2:c.1233G>C, NM_001288804.2:c.1233G>A, NM_001288804.1:c.1233G>C, NM_001288804.1:c.1233G>A, NM_001288810.3:c.1103G>C, NM_001288810.3:c.1103G>A, NM_001288810.2:c.1103G>C, NM_001288810.2:c.1103G>A, NM_001288810.1:c.1103G>C, NM_001288810.1:c.1103G>A, NM_001346642.2:c.939G>C, NM_001346642.2:c.939G>A, NM_001346642.1:c.939G>C, NM_001346642.1:c.939G>A, XM_011516001.3:c.939G>C, XM_011516001.3:c.939G>A, XM_011516001.2:c.939G>C, XM_011516001.2:c.939G>A, XM_011516001.1:c.939G>C, XM_011516001.1:c.939G>A, NP_937794.1:p.Arg376Ser, NP_001034461.1:p.Arg388Ser, NP_001275733.1:p.Arg411Ser, NP_001275739.1:p.Gly368Ala, NP_001275739.1:p.Gly368Asp, NP_001333571.1:p.Arg313Ser, XP_011514303.1:p.Arg313Ser

Select item 147763798311.

rs1477637983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:93208677 (GRCh38)
7:92837990 (GRCh37)
Canonical SPDI:: NC_000007.14:93208676:T:C
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.93208677T>C, NC_000007.13:g.92837990T>C, NG_051957.1:g.28522A>G, NM_198151.4:c.879A>G, NM_198151.3:c.879A>G, NM_198151.2:c.879A>G, NM_198151.1:c.879A>G, NM_001039372.4:c.915A>G, NM_001039372.3:c.915A>G, NM_001039372.2:c.915A>G, NM_001039372.1:c.915A>G, NM_001288804.3:c.984A>G, NM_001288804.2:c.984A>G, NM_001288804.1:c.984A>G, NM_001288810.3:c.879A>G, NM_001288810.2:c.879A>G, NM_001288810.1:c.879A>G, NM_001346642.2:c.690A>G, NM_001346642.1:c.690A>G, XM_011516001.3:c.690A>G, XM_011516001.2:c.690A>G, XM_011516001.1:c.690A>G

Select item 147597127312.

rs1475971273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:93195857 (GRCh38)
7:92825170 (GRCh37)
Canonical SPDI:: NC_000007.14:93195856:C:G
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93195857C>G, NC_000007.13:g.92825170C>G, NG_051957.1:g.41342G>C, NM_198151.4:c.1210G>C, NM_198151.3:c.1210G>C, NM_198151.2:c.1210G>C, NM_198151.1:c.1210G>C, NM_001039372.4:c.1246G>C, NM_001039372.3:c.1246G>C, NM_001039372.2:c.1246G>C, NM_001039372.1:c.1246G>C, NM_001288804.3:c.1315G>C, NM_001288804.2:c.1315G>C, NM_001288804.1:c.1315G>C, NM_001288810.3:c.1185G>C, NM_001288810.2:c.1185G>C, NM_001288810.1:c.1185G>C, NM_001346642.2:c.1021G>C, NM_001346642.1:c.1021G>C, XM_011516001.3:c.1021G>C, XM_011516001.2:c.1021G>C, XM_011516001.1:c.1021G>C, NP_937794.1:p.Ala404Pro, NP_001034461.1:p.Ala416Pro, NP_001275733.1:p.Ala439Pro, NP_001275739.1:p.Leu395Phe, NP_001333571.1:p.Ala341Pro, XP_011514303.1:p.Ala341Pro

Select item 147498893213.

rs1474988932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:93197485 (GRCh38)
7:92826798 (GRCh37)
Canonical SPDI:: NC_000007.14:93197484:C:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.93197485C>A, NC_000007.13:g.92826798C>A, NG_051957.1:g.39714G>T, NM_198151.4:c.1102G>T, NM_198151.3:c.1102G>T, NM_198151.2:c.1102G>T, NM_198151.1:c.1102G>T, NM_001039372.4:c.1138G>T, NM_001039372.3:c.1138G>T, NM_001039372.2:c.1138G>T, NM_001039372.1:c.1138G>T, NM_001288804.3:c.1207G>T, NM_001288804.2:c.1207G>T, NM_001288804.1:c.1207G>T, NM_001288810.3:c.1102G>T, NM_001288810.2:c.1102G>T, NM_001288810.1:c.1102G>T, NM_001346642.2:c.913G>T, NM_001346642.1:c.913G>T, XM_011516001.3:c.913G>T, XM_011516001.2:c.913G>T, XM_011516001.1:c.913G>T, NP_937794.1:p.Val368Phe, NP_001034461.1:p.Val380Phe, NP_001275733.1:p.Val403Phe, NP_001275739.1:p.Gly368Cys, NP_001333571.1:p.Val305Phe, XP_011514303.1:p.Val305Phe

Select item 147487817614.

rs1474878176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:93208635 (GRCh38)
7:92837948 (GRCh37)
Canonical SPDI:: NC_000007.14:93208634:G:A,NC_000007.14:93208634:G:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.93208635G>A, NC_000007.14:g.93208635G>T, NC_000007.13:g.92837948G>A, NC_000007.13:g.92837948G>T, NG_051957.1:g.28564C>T, NG_051957.1:g.28564C>A, NM_198151.4:c.921C>T, NM_198151.4:c.921C>A, NM_198151.3:c.921C>T, NM_198151.3:c.921C>A, NM_198151.2:c.921C>T, NM_198151.2:c.921C>A, NM_198151.1:c.921C>T, NM_198151.1:c.921C>A, NM_001039372.4:c.957C>T, NM_001039372.4:c.957C>A, NM_001039372.3:c.957C>T, NM_001039372.3:c.957C>A, NM_001039372.2:c.957C>T, NM_001039372.2:c.957C>A, NM_001039372.1:c.957C>T, NM_001039372.1:c.957C>A, NM_001288804.3:c.1026C>T, NM_001288804.3:c.1026C>A, NM_001288804.2:c.1026C>T, NM_001288804.2:c.1026C>A, NM_001288804.1:c.1026C>T, NM_001288804.1:c.1026C>A, NM_001288810.3:c.921C>T, NM_001288810.3:c.921C>A, NM_001288810.2:c.921C>T, NM_001288810.2:c.921C>A, NM_001288810.1:c.921C>T, NM_001288810.1:c.921C>A, NM_001346642.2:c.732C>T, NM_001346642.2:c.732C>A, NM_001346642.1:c.732C>T, NM_001346642.1:c.732C>A, XM_011516001.3:c.732C>T, XM_011516001.3:c.732C>A, XM_011516001.2:c.732C>T, XM_011516001.2:c.732C>A, XM_011516001.1:c.732C>T, XM_011516001.1:c.732C>A, NP_937794.1:p.Asn307Lys, NP_001034461.1:p.Asn319Lys, NP_001275733.1:p.Asn342Lys, NP_001275739.1:p.Asn307Lys, NP_001333571.1:p.Asn244Lys, XP_011514303.1:p.Asn244Lys

Select item 147400819115.

rs1474008191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:93208731 (GRCh38)
7:92838044 (GRCh37)
Canonical SPDI:: NC_000007.14:93208730:G:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93208731G>T, NC_000007.13:g.92838044G>T, NG_051957.1:g.28468C>A, NM_198151.4:c.825C>A, NM_198151.3:c.825C>A, NM_198151.2:c.825C>A, NM_198151.1:c.825C>A, NM_001039372.4:c.861C>A, NM_001039372.3:c.861C>A, NM_001039372.2:c.861C>A, NM_001039372.1:c.861C>A, NM_001288804.3:c.930C>A, NM_001288804.2:c.930C>A, NM_001288804.1:c.930C>A, NM_001288810.3:c.825C>A, NM_001288810.2:c.825C>A, NM_001288810.1:c.825C>A, NM_001346642.2:c.636C>A, NM_001346642.1:c.636C>A, XM_011516001.3:c.636C>A, XM_011516001.2:c.636C>A, XM_011516001.1:c.636C>A, NP_937794.1:p.Asp275Glu, NP_001034461.1:p.Asp287Glu, NP_001275733.1:p.Asp310Glu, NP_001275739.1:p.Asp275Glu, NP_001333571.1:p.Asp212Glu, XP_011514303.1:p.Asp212Glu

Select item 146649387716.

rs1466493877 has merged into rs1299788313 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:93208761 (GRCh38)
7:92838074 (GRCh37)
Canonical SPDI:: NC_000007.14:93208760:GGGGGG:GGGGG,NC_000007.14:93208760:GGGGGG:GGGGGGG
Gene:: HEPACAM2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.93208766del, NC_000007.14:g.93208766dup, NC_000007.13:g.92838079del, NC_000007.13:g.92838079dup, NG_051957.1:g.28438del, NG_051957.1:g.28438dup, NM_198151.4:c.795del, NM_198151.4:c.795dup, NM_198151.3:c.795del, NM_198151.3:c.795dup, NM_198151.2:c.795del, NM_198151.2:c.795dup, NM_198151.1:c.795del, NM_198151.1:c.795dup, NM_001039372.4:c.831del, NM_001039372.4:c.831dup, NM_001039372.3:c.831del, NM_001039372.3:c.831dup, NM_001039372.2:c.831del, NM_001039372.2:c.831dup, NM_001039372.1:c.831del, NM_001039372.1:c.831dup, NM_001288804.3:c.900del, NM_001288804.3:c.900dup, NM_001288804.2:c.900del, NM_001288804.2:c.900dup, NM_001288804.1:c.900del, NM_001288804.1:c.900dup, NM_001288810.3:c.795del, NM_001288810.3:c.795dup, NM_001288810.2:c.795del, NM_001288810.2:c.795dup, NM_001288810.1:c.795del, NM_001288810.1:c.795dup, NM_001346642.2:c.606del, NM_001346642.2:c.606dup, NM_001346642.1:c.606del, NM_001346642.1:c.606dup, XM_011516001.3:c.606del, XM_011516001.3:c.606dup, XM_011516001.2:c.606del, XM_011516001.2:c.606dup, XM_011516001.1:c.606del, XM_011516001.1:c.606dup, NP_937794.1:p.Asn266fs, NP_937794.1:p.Asn266fs, NP_001034461.1:p.Asn278fs, NP_001034461.1:p.Asn278fs, NP_001275733.1:p.Asn301fs, NP_001275733.1:p.Asn301fs, NP_001275739.1:p.Asn266fs, NP_001275739.1:p.Asn266fs, NP_001333571.1:p.Asn203fs, NP_001333571.1:p.Asn203fs, XP_011514303.1:p.Asn203fs, XP_011514303.1:p.Asn203fs

Select item 146648622817.

rs1466486228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93219194 (GRCh38)
7:92848507 (GRCh37)
Canonical SPDI:: NC_000007.14:93219193:G:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.93219194G>A, NC_000007.13:g.92848507G>A, NG_051957.1:g.18005C>T, NM_198151.4:c.301C>T, NM_198151.3:c.301C>T, NM_198151.2:c.301C>T, NM_198151.1:c.301C>T, NM_001039372.4:c.337C>T, NM_001039372.3:c.337C>T, NM_001039372.2:c.337C>T, NM_001039372.1:c.337C>T, NM_001288804.3:c.406C>T, NM_001288804.2:c.406C>T, NM_001288804.1:c.406C>T, NM_001288810.3:c.301C>T, NM_001288810.2:c.301C>T, NM_001288810.1:c.301C>T, NM_001346642.2:c.112C>T, NM_001346642.1:c.112C>T, XM_011516001.3:c.112C>T, XM_011516001.2:c.112C>T, XM_011516001.1:c.112C>T, NP_937794.1:p.Gln101Ter, NP_001034461.1:p.Gln113Ter, NP_001275733.1:p.Gln136Ter, NP_001275739.1:p.Gln101Ter, NP_001333571.1:p.Gln38Ter, XP_011514303.1:p.Gln38Ter

Select item 145982118718.

rs1459821187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:93219198 (GRCh38)
7:92848511 (GRCh37)
Canonical SPDI:: NC_000007.14:93219197:T:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93219198T>A, NC_000007.13:g.92848511T>A, NG_051957.1:g.18001A>T, NM_198151.4:c.297A>T, NM_198151.3:c.297A>T, NM_198151.2:c.297A>T, NM_198151.1:c.297A>T, NM_001039372.4:c.333A>T, NM_001039372.3:c.333A>T, NM_001039372.2:c.333A>T, NM_001039372.1:c.333A>T, NM_001288804.3:c.402A>T, NM_001288804.2:c.402A>T, NM_001288804.1:c.402A>T, NM_001288810.3:c.297A>T, NM_001288810.2:c.297A>T, NM_001288810.1:c.297A>T, NM_001346642.2:c.108A>T, NM_001346642.1:c.108A>T, XM_011516001.3:c.108A>T, XM_011516001.2:c.108A>T, XM_011516001.1:c.108A>T

Select item 145947333419.

rs1459473334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:93219101 (GRCh38)
7:92848414 (GRCh37)
Canonical SPDI:: NC_000007.14:93219100:C:G,NC_000007.14:93219100:C:T
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.93219101C>G, NC_000007.14:g.93219101C>T, NC_000007.13:g.92848414C>G, NC_000007.13:g.92848414C>T, NG_051957.1:g.18098G>C, NG_051957.1:g.18098G>A, NM_198151.4:c.394G>C, NM_198151.4:c.394G>A, NM_198151.3:c.394G>C, NM_198151.3:c.394G>A, NM_198151.2:c.394G>C, NM_198151.2:c.394G>A, NM_198151.1:c.394G>C, NM_198151.1:c.394G>A, NM_001039372.4:c.430G>C, NM_001039372.4:c.430G>A, NM_001039372.3:c.430G>C, NM_001039372.3:c.430G>A, NM_001039372.2:c.430G>C, NM_001039372.2:c.430G>A, NM_001039372.1:c.430G>C, NM_001039372.1:c.430G>A, NM_001288804.3:c.499G>C, NM_001288804.3:c.499G>A, NM_001288804.2:c.499G>C, NM_001288804.2:c.499G>A, NM_001288804.1:c.499G>C, NM_001288804.1:c.499G>A, NM_001288810.3:c.394G>C, NM_001288810.3:c.394G>A, NM_001288810.2:c.394G>C, NM_001288810.2:c.394G>A, NM_001288810.1:c.394G>C, NM_001288810.1:c.394G>A, NM_001346642.2:c.205G>C, NM_001346642.2:c.205G>A, NM_001346642.1:c.205G>C, NM_001346642.1:c.205G>A, XM_011516001.3:c.205G>C, XM_011516001.3:c.205G>A, XM_011516001.2:c.205G>C, XM_011516001.2:c.205G>A, XM_011516001.1:c.205G>C, XM_011516001.1:c.205G>A, NP_937794.1:p.Asp132His, NP_937794.1:p.Asp132Asn, NP_001034461.1:p.Asp144His, NP_001034461.1:p.Asp144Asn, NP_001275733.1:p.Asp167His, NP_001275733.1:p.Asp167Asn, NP_001275739.1:p.Asp132His, NP_001275739.1:p.Asp132Asn, NP_001333571.1:p.Asp69His, NP_001333571.1:p.Asp69Asn, XP_011514303.1:p.Asp69His, XP_011514303.1:p.Asp69Asn

Select item 145939335520.

rs1459393355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:93208749 (GRCh38)
7:92838062 (GRCh37)
Canonical SPDI:: NC_000007.14:93208748:G:A
Gene:: HEPACAM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.93208749G>A, NC_000007.13:g.92838062G>A, NG_051957.1:g.28450C>T, NM_198151.4:c.807C>T, NM_198151.3:c.807C>T, NM_198151.2:c.807C>T, NM_198151.1:c.807C>T, NM_001039372.4:c.843C>T, NM_001039372.3:c.843C>T, NM_001039372.2:c.843C>T, NM_001039372.1:c.843C>T, NM_001288804.3:c.912C>T, NM_001288804.2:c.912C>T, NM_001288804.1:c.912C>T, NM_001288810.3:c.807C>T, NM_001288810.2:c.807C>T, NM_001288810.1:c.807C>T, NM_001346642.2:c.618C>T, NM_001346642.1:c.618C>T, XM_011516001.3:c.618C>T, XM_011516001.2:c.618C>T, XM_011516001.1:c.618C>T

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