SNP Links for Protein (Select 767940546) - SNP

Select item 14908052301.

rs1490805230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43454872 (GRCh38)
6:43422610 (GRCh37)
Canonical SPDI:: NC_000006.12:43454871:C:A
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.43454872C>A, NC_000006.11:g.43422610C>A, XM_005249308.6:c.233G>T, XM_005249308.5:c.233G>T, XM_005249308.4:c.233G>T, XM_005249308.3:c.233G>T, XM_005249308.2:c.233G>T, XM_005249308.1:c.233G>T, XM_011514823.4:c.233G>T, XM_011514823.3:c.233G>T, XM_011514823.2:c.233G>T, XM_011514823.1:c.233G>T, NM_023932.4:c.-47G>T, NM_023932.3:c.-47G>T, NM_023932.2:c.-47G>T, NM_206539.2:c.-47G>T, NM_206539.1:c.-47G>T, NM_001286656.2:c.-47G>T, NM_001286656.1:c.-47G>T, XM_047419264.1:c.-47G>T, NM_001286655.1:c.-47G>T, XM_047419263.1:c.-47G>T, XP_005249365.1:p.Arg78Leu, XP_011513125.1:p.Arg78Leu

Select item 14902078122.

rs1490207812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43453134 (GRCh38)
6:43420872 (GRCh37)
Canonical SPDI:: NC_000006.12:43453133:A:G
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43453134A>G, NC_000006.11:g.43420872A>G, XM_005249308.6:c.421T>C, XM_005249308.5:c.421T>C, XM_005249308.4:c.421T>C, XM_005249308.3:c.421T>C, XM_005249308.2:c.421T>C, XM_005249308.1:c.421T>C, XM_011514823.4:c.421T>C, XM_011514823.3:c.421T>C, XM_011514823.2:c.421T>C, XM_011514823.1:c.421T>C, NM_023932.4:c.142T>C, NM_023932.3:c.142T>C, NM_023932.2:c.142T>C, NM_206539.2:c.142T>C, NM_206539.1:c.142T>C, NM_001286656.2:c.142T>C, NM_001286656.1:c.142T>C, XM_047419265.1:c.40T>C, XM_047419264.1:c.142T>C, NM_001286655.1:c.142T>C, XM_047419263.1:c.142T>C, XP_005249365.1:p.Cys141Arg, XP_011513125.1:p.Cys141Arg, NP_076421.2:p.Cys48Arg, NP_996262.1:p.Cys48Arg, NP_001273585.1:p.Cys48Arg, XP_047275221.1:p.Cys14Arg, XP_047275220.1:p.Cys48Arg, NP_001273584.1:p.Cys48Arg, XP_047275219.1:p.Cys48Arg

Select item 14896351403.

rs1489635140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:43454783 (GRCh38)
6:43422521 (GRCh37)
Canonical SPDI:: NC_000006.12:43454782:A:C
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.43454783A>C, NC_000006.11:g.43422521A>C, XM_005249308.6:c.322T>G, XM_005249308.5:c.322T>G, XM_005249308.4:c.322T>G, XM_005249308.3:c.322T>G, XM_005249308.2:c.322T>G, XM_005249308.1:c.322T>G, XM_011514823.4:c.322T>G, XM_011514823.3:c.322T>G, XM_011514823.2:c.322T>G, XM_011514823.1:c.322T>G, NM_023932.4:c.43T>G, NM_023932.3:c.43T>G, NM_023932.2:c.43T>G, NM_206539.2:c.43T>G, NM_206539.1:c.43T>G, NM_001286656.2:c.43T>G, NM_001286656.1:c.43T>G, XM_047419265.1:c.-1441T>G, XM_047419264.1:c.43T>G, NM_001286655.1:c.43T>G, XM_047419263.1:c.43T>G, XP_005249365.1:p.Cys108Gly, XP_011513125.1:p.Cys108Gly, NP_076421.2:p.Cys15Gly, NP_996262.1:p.Cys15Gly, NP_001273585.1:p.Cys15Gly, XP_047275220.1:p.Cys15Gly, NP_001273584.1:p.Cys15Gly, XP_047275219.1:p.Cys15Gly

Select item 14872935334.

rs1487293533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:43450558 (GRCh38)
6:43418296 (GRCh37)
Canonical SPDI:: NC_000006.12:43450557:C:A,NC_000006.12:43450557:C:T
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.43450558C>A, NC_000006.12:g.43450558C>T, NC_000006.11:g.43418296C>A, NC_000006.11:g.43418296C>T, XM_005249308.6:c.1412G>T, XM_005249308.6:c.1412G>A, XM_005249308.5:c.1412G>T, XM_005249308.5:c.1412G>A, XM_005249308.4:c.1412G>T, XM_005249308.4:c.1412G>A, XM_005249308.3:c.1412G>T, XM_005249308.3:c.1412G>A, XM_005249308.2:c.1412G>T, XM_005249308.2:c.1412G>A, XM_005249308.1:c.1412G>T, XM_005249308.1:c.1412G>A, XM_011514823.4:c.1319G>T, XM_011514823.4:c.1319G>A, XM_011514823.3:c.1319G>T, XM_011514823.3:c.1319G>A, XM_011514823.2:c.1319G>T, XM_011514823.2:c.1319G>A, XM_011514823.1:c.1319G>T, XM_011514823.1:c.1319G>A, NM_023932.4:c.1133G>T, NM_023932.4:c.1133G>A, NM_023932.3:c.1133G>T, NM_023932.3:c.1133G>A, NM_023932.2:c.1133G>T, NM_023932.2:c.1133G>A, NM_206539.2:c.1133G>T, NM_206539.2:c.1133G>A, NM_206539.1:c.1133G>T, NM_206539.1:c.1133G>A, NM_001286656.2:c.1115G>T, NM_001286656.2:c.1115G>A, NM_001286656.1:c.1115G>T, NM_001286656.1:c.1115G>A, XM_047419265.1:c.1031G>T, XM_047419265.1:c.1031G>A, XM_047419264.1:c.1040G>T, XM_047419264.1:c.1040G>A, NM_001286655.1:c.1022G>T, NM_001286655.1:c.1022G>A, XM_047419263.1:c.1040G>T, XM_047419263.1:c.1040G>A, XP_005249365.1:p.Gly471Val, XP_005249365.1:p.Gly471Glu, XP_011513125.1:p.Gly440Val, XP_011513125.1:p.Gly440Glu, NP_076421.2:p.Gly378Val, NP_076421.2:p.Gly378Glu, NP_996262.1:p.Gly378Val, NP_996262.1:p.Gly378Glu, NP_001273585.1:p.Gly372Val, NP_001273585.1:p.Gly372Glu, XP_047275221.1:p.Gly344Val, XP_047275221.1:p.Gly344Glu, XP_047275220.1:p.Gly347Val, XP_047275220.1:p.Gly347Glu, NP_001273584.1:p.Gly341Val, NP_001273584.1:p.Gly341Glu, XP_047275219.1:p.Gly347Val, XP_047275219.1:p.Gly347Glu

Select item 14823588915.

rs1482358891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:43451003 (GRCh38)
6:43418741 (GRCh37)
Canonical SPDI:: NC_000006.12:43451002:G:A,NC_000006.12:43451002:G:T
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43451003G>A, NC_000006.12:g.43451003G>T, NC_000006.11:g.43418741G>A, NC_000006.11:g.43418741G>T, XM_005249308.6:c.967C>T, XM_005249308.6:c.967C>A, XM_005249308.5:c.967C>T, XM_005249308.5:c.967C>A, XM_005249308.4:c.967C>T, XM_005249308.4:c.967C>A, XM_005249308.3:c.967C>T, XM_005249308.3:c.967C>A, XM_005249308.2:c.967C>T, XM_005249308.2:c.967C>A, XM_005249308.1:c.967C>T, XM_005249308.1:c.967C>A, XM_011514823.4:c.874C>T, XM_011514823.4:c.874C>A, XM_011514823.3:c.874C>T, XM_011514823.3:c.874C>A, XM_011514823.2:c.874C>T, XM_011514823.2:c.874C>A, XM_011514823.1:c.874C>T, XM_011514823.1:c.874C>A, NM_023932.4:c.688C>T, NM_023932.4:c.688C>A, NM_023932.3:c.688C>T, NM_023932.3:c.688C>A, NM_023932.2:c.688C>T, NM_023932.2:c.688C>A, NM_206539.2:c.688C>T, NM_206539.2:c.688C>A, NM_206539.1:c.688C>T, NM_206539.1:c.688C>A, NM_001286656.2:c.670C>T, NM_001286656.2:c.670C>A, NM_001286656.1:c.670C>T, NM_001286656.1:c.670C>A, XM_047419265.1:c.586C>T, XM_047419265.1:c.586C>A, XM_047419264.1:c.595C>T, XM_047419264.1:c.595C>A, NM_001286655.1:c.577C>T, NM_001286655.1:c.577C>A, XM_047419263.1:c.595C>T, XM_047419263.1:c.595C>A, XP_005249365.1:p.Arg323Cys, XP_005249365.1:p.Arg323Ser, XP_011513125.1:p.Arg292Cys, XP_011513125.1:p.Arg292Ser, NP_076421.2:p.Arg230Cys, NP_076421.2:p.Arg230Ser, NP_996262.1:p.Arg230Cys, NP_996262.1:p.Arg230Ser, NP_001273585.1:p.Arg224Cys, NP_001273585.1:p.Arg224Ser, XP_047275221.1:p.Arg196Cys, XP_047275221.1:p.Arg196Ser, XP_047275220.1:p.Arg199Cys, XP_047275220.1:p.Arg199Ser, NP_001273584.1:p.Arg193Cys, NP_001273584.1:p.Arg193Ser, XP_047275219.1:p.Arg199Cys, XP_047275219.1:p.Arg199Ser

Select item 14822089336.

rs1482208933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43454936 (GRCh38)
6:43422674 (GRCh37)
Canonical SPDI:: NC_000006.12:43454935:C:T
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.43454936C>T, NC_000006.11:g.43422674C>T, XM_005249308.6:c.169G>A, XM_005249308.5:c.169G>A, XM_005249308.4:c.169G>A, XM_005249308.3:c.169G>A, XM_005249308.2:c.169G>A, XM_005249308.1:c.169G>A, XM_011514823.4:c.169G>A, XM_011514823.3:c.169G>A, XM_011514823.2:c.169G>A, XM_011514823.1:c.169G>A, XP_005249365.1:p.Val57Ile, XP_011513125.1:p.Val57Ile

Select item 14813170207.

rs1481317020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43454796 (GRCh38)
6:43422534 (GRCh37)
Canonical SPDI:: NC_000006.12:43454795:G:A
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43454796G>A, NC_000006.11:g.43422534G>A, XM_005249308.6:c.309C>T, XM_005249308.5:c.309C>T, XM_005249308.4:c.309C>T, XM_005249308.3:c.309C>T, XM_005249308.2:c.309C>T, XM_005249308.1:c.309C>T, XM_011514823.4:c.309C>T, XM_011514823.3:c.309C>T, XM_011514823.2:c.309C>T, XM_011514823.1:c.309C>T, NM_023932.4:c.30C>T, NM_023932.3:c.30C>T, NM_023932.2:c.30C>T, NM_206539.2:c.30C>T, NM_206539.1:c.30C>T, NM_001286656.2:c.30C>T, NM_001286656.1:c.30C>T, XM_047419265.1:c.-1454C>T, XM_047419264.1:c.30C>T, NM_001286655.1:c.30C>T, XM_047419263.1:c.30C>T

Select item 14804282448.

rs1480428244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43453008 (GRCh38)
6:43420746 (GRCh37)
Canonical SPDI:: NC_000006.12:43453007:T:C
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43453008T>C, NC_000006.11:g.43420746T>C, XM_005249308.6:c.547A>G, XM_005249308.5:c.547A>G, XM_005249308.4:c.547A>G, XM_005249308.3:c.547A>G, XM_005249308.2:c.547A>G, XM_005249308.1:c.547A>G, XM_011514823.4:c.547A>G, XM_011514823.3:c.547A>G, XM_011514823.2:c.547A>G, XM_011514823.1:c.547A>G, NM_023932.4:c.268A>G, NM_023932.3:c.268A>G, NM_023932.2:c.268A>G, NM_206539.2:c.268A>G, NM_206539.1:c.268A>G, XM_047419265.1:c.166A>G, XM_047419264.1:c.268A>G, XM_047419263.1:c.268A>G, XP_005249365.1:p.Lys183Glu, XP_011513125.1:p.Lys183Glu, NP_076421.2:p.Lys90Glu, NP_996262.1:p.Lys90Glu, XP_047275221.1:p.Lys56Glu, XP_047275220.1:p.Lys90Glu, XP_047275219.1:p.Lys90Glu

Select item 14758894939.

rs1475889493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43450841 (GRCh38)
6:43418579 (GRCh37)
Canonical SPDI:: NC_000006.12:43450840:C:A
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.43450841C>A, NC_000006.11:g.43418579C>A, XM_005249308.6:c.1129G>T, XM_005249308.5:c.1129G>T, XM_005249308.4:c.1129G>T, XM_005249308.3:c.1129G>T, XM_005249308.2:c.1129G>T, XM_005249308.1:c.1129G>T, XM_011514823.4:c.1036G>T, XM_011514823.3:c.1036G>T, XM_011514823.2:c.1036G>T, XM_011514823.1:c.1036G>T, NM_023932.4:c.850G>T, NM_023932.3:c.850G>T, NM_023932.2:c.850G>T, NM_206539.2:c.850G>T, NM_206539.1:c.850G>T, NM_001286656.2:c.832G>T, NM_001286656.1:c.832G>T, XM_047419265.1:c.748G>T, XM_047419264.1:c.757G>T, NM_001286655.1:c.739G>T, XM_047419263.1:c.757G>T, XP_005249365.1:p.Ala377Ser, XP_011513125.1:p.Ala346Ser, NP_076421.2:p.Ala284Ser, NP_996262.1:p.Ala284Ser, NP_001273585.1:p.Ala278Ser, XP_047275221.1:p.Ala250Ser, XP_047275220.1:p.Ala253Ser, NP_001273584.1:p.Ala247Ser, XP_047275219.1:p.Ala253Ser

Select item 147531817410.

rs1475318174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:43451244 (GRCh38)
6:43418982 (GRCh37)
Canonical SPDI:: NC_000006.12:43451243:C:G
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43451244C>G, NC_000006.11:g.43418982C>G, XM_005249308.6:c.726G>C, XM_005249308.5:c.726G>C, XM_005249308.4:c.726G>C, XM_005249308.3:c.726G>C, XM_005249308.2:c.726G>C, XM_005249308.1:c.726G>C, XM_011514823.4:c.633G>C, XM_011514823.3:c.633G>C, XM_011514823.2:c.633G>C, XM_011514823.1:c.633G>C, NM_023932.4:c.447G>C, NM_023932.3:c.447G>C, NM_023932.2:c.447G>C, NM_206539.2:c.447G>C, NM_206539.1:c.447G>C, NM_001286656.2:c.429G>C, NM_001286656.1:c.429G>C, XM_047419265.1:c.345G>C, XM_047419264.1:c.354G>C, NM_001286655.1:c.336G>C, XM_047419263.1:c.354G>C, XP_005249365.1:p.Gln242His, XP_011513125.1:p.Gln211His, NP_076421.2:p.Gln149His, NP_996262.1:p.Gln149His, NP_001273585.1:p.Gln143His, XP_047275221.1:p.Gln115His, XP_047275220.1:p.Gln118His, NP_001273584.1:p.Gln112His, XP_047275219.1:p.Gln118His

Select item 147290360311.

rs1472903603 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:43450586 (GRCh38)
6:43418324 (GRCh37)
Canonical SPDI:: NC_000006.12:43450585:GGGGG:GGGG
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.43450590del, NC_000006.11:g.43418328del, XM_005249308.6:c.1384del, XM_005249308.5:c.1384del, XM_005249308.4:c.1384del, XM_005249308.3:c.1384del, XM_005249308.2:c.1384del, XM_005249308.1:c.1384del, XM_011514823.4:c.1291del, XM_011514823.3:c.1291del, XM_011514823.2:c.1291del, XM_011514823.1:c.1291del, NM_023932.4:c.1105del, NM_023932.3:c.1105del, NM_023932.2:c.1105del, NM_206539.2:c.1105del, NM_206539.1:c.1105del, NM_001286656.2:c.1087del, NM_001286656.1:c.1087del, XM_047419265.1:c.1003del, XM_047419264.1:c.1012del, NM_001286655.1:c.994del, XM_047419263.1:c.1012del, XP_005249365.1:p.Leu462fs, XP_011513125.1:p.Leu431fs, NP_076421.2:p.Leu369fs, NP_996262.1:p.Leu369fs, NP_001273585.1:p.Leu363fs, XP_047275221.1:p.Leu335fs, XP_047275220.1:p.Leu338fs, NP_001273584.1:p.Leu332fs, XP_047275219.1:p.Leu338fs

Select item 147169520912.

rs1471695209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:43455033 (GRCh38)
6:43422771 (GRCh37)
Canonical SPDI:: NC_000006.12:43455032:A:T
Gene:: DLK2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.43455033A>T, NC_000006.11:g.43422771A>T, XM_005249308.6:c.72T>A, XM_005249308.5:c.72T>A, XM_005249308.4:c.72T>A, XM_005249308.3:c.72T>A, XM_005249308.2:c.72T>A, XM_005249308.1:c.72T>A, XM_011514823.4:c.72T>A, XM_011514823.3:c.72T>A, XM_011514823.2:c.72T>A, XM_011514823.1:c.72T>A

Select item 147136531013.

rs1471365310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:43454414 (GRCh38)
6:43422152 (GRCh37)
Canonical SPDI:: NC_000006.12:43454413:C:A
Gene:: DLK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.43454414C>A, NC_000006.11:g.43422152C>A, XM_005249308.6:c.416G>T, XM_005249308.5:c.416G>T, XM_005249308.4:c.416G>T, XM_005249308.3:c.416G>T, XM_005249308.2:c.416G>T, XM_005249308.1:c.416G>T, XM_011514823.4:c.416G>T, XM_011514823.3:c.416G>T, XM_011514823.2:c.416G>T, XM_011514823.1:c.416G>T, NM_023932.4:c.137G>T, NM_023932.3:c.137G>T, NM_023932.2:c.137G>T, NM_206539.2:c.137G>T, NM_206539.1:c.137G>T, NM_001286656.2:c.137G>T, NM_001286656.1:c.137G>T, XM_047419265.1:c.-1241G>T, XM_047419264.1:c.137G>T, NM_001286655.1:c.137G>T, XM_047419263.1:c.137G>T, XP_005249365.1:p.Cys139Phe, XP_011513125.1:p.Cys139Phe, NP_076421.2:p.Cys46Phe, NP_996262.1:p.Cys46Phe, NP_001273585.1:p.Cys46Phe, XP_047275220.1:p.Cys46Phe, NP_001273584.1:p.Cys46Phe, XP_047275219.1:p.Cys46Phe

Select item 147118747514.

rs1471187475 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:43454923 (GRCh38)
6:43422661 (GRCh37)
Canonical SPDI:: NC_000006.12:43454922:A:G
Gene:: DLK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000006.12:g.43454923A>G, NC_000006.11:g.43422661A>G, XM_005249308.6:c.182T>C, XM_005249308.5:c.182T>C, XM_005249308.4:c.182T>C, XM_005249308.3:c.182T>C, XM_005249308.2:c.182T>C, XM_005249308.1:c.182T>C, XM_011514823.4:c.182T>C, XM_011514823.3:c.182T>C, XM_011514823.2:c.182T>C, XM_011514823.1:c.182T>C, XP_005249365.1:p.Leu61Pro, XP_011513125.1:p.Leu61Pro

Select item 147081090915.

rs1470810909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:43451237 (GRCh38)
6:43418975 (GRCh37)
Canonical SPDI:: NC_000006.12:43451236:G:T
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000006.12:g.43451237G>T, NC_000006.11:g.43418975G>T, XM_005249308.6:c.733C>A, XM_005249308.5:c.733C>A, XM_005249308.4:c.733C>A, XM_005249308.3:c.733C>A, XM_005249308.2:c.733C>A, XM_005249308.1:c.733C>A, XM_011514823.4:c.640C>A, XM_011514823.3:c.640C>A, XM_011514823.2:c.640C>A, XM_011514823.1:c.640C>A, NM_023932.4:c.454C>A, NM_023932.3:c.454C>A, NM_023932.2:c.454C>A, NM_206539.2:c.454C>A, NM_206539.1:c.454C>A, NM_001286656.2:c.436C>A, NM_001286656.1:c.436C>A, XM_047419265.1:c.352C>A, XM_047419264.1:c.361C>A, NM_001286655.1:c.343C>A, XM_047419263.1:c.361C>A, XP_005249365.1:p.Gln245Lys, XP_011513125.1:p.Gln214Lys, NP_076421.2:p.Gln152Lys, NP_996262.1:p.Gln152Lys, NP_001273585.1:p.Gln146Lys, XP_047275221.1:p.Gln118Lys, XP_047275220.1:p.Gln121Lys, NP_001273584.1:p.Gln115Lys, XP_047275219.1:p.Gln121Lys

Select item 146483457816.

rs1464834578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43454950 (GRCh38)
6:43422688 (GRCh37)
Canonical SPDI:: NC_000006.12:43454949:C:T
Gene:: DLK2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.43454950C>T, NC_000006.11:g.43422688C>T, XM_005249308.6:c.155G>A, XM_005249308.5:c.155G>A, XM_005249308.4:c.155G>A, XM_005249308.3:c.155G>A, XM_005249308.2:c.155G>A, XM_005249308.1:c.155G>A, XM_011514823.4:c.155G>A, XM_011514823.3:c.155G>A, XM_011514823.2:c.155G>A, XM_011514823.1:c.155G>A, XP_005249365.1:p.Cys52Tyr, XP_011513125.1:p.Cys52Tyr

Select item 146408035317.

rs1464080353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:43450777 (GRCh38)
6:43418515 (GRCh37)
Canonical SPDI:: NC_000006.12:43450776:G:T
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43450777G>T, NC_000006.11:g.43418515G>T, XM_005249308.6:c.1193C>A, XM_005249308.5:c.1193C>A, XM_005249308.4:c.1193C>A, XM_005249308.3:c.1193C>A, XM_005249308.2:c.1193C>A, XM_005249308.1:c.1193C>A, XM_011514823.4:c.1100C>A, XM_011514823.3:c.1100C>A, XM_011514823.2:c.1100C>A, XM_011514823.1:c.1100C>A, NM_023932.4:c.914C>A, NM_023932.3:c.914C>A, NM_023932.2:c.914C>A, NM_206539.2:c.914C>A, NM_206539.1:c.914C>A, NM_001286656.2:c.896C>A, NM_001286656.1:c.896C>A, XM_047419265.1:c.812C>A, XM_047419264.1:c.821C>A, NM_001286655.1:c.803C>A, XM_047419263.1:c.821C>A, XP_005249365.1:p.Pro398His, XP_011513125.1:p.Pro367His, NP_076421.2:p.Pro305His, NP_996262.1:p.Pro305His, NP_001273585.1:p.Pro299His, XP_047275221.1:p.Pro271His, XP_047275220.1:p.Pro274His, NP_001273584.1:p.Pro268His, XP_047275219.1:p.Pro274His

Select item 146032052118.

rs1460320521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:43453093 (GRCh38)
6:43420831 (GRCh37)
Canonical SPDI:: NC_000006.12:43453092:C:T
Gene:: DLK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43453093C>T, NC_000006.11:g.43420831C>T, XM_005249308.6:c.462G>A, XM_005249308.5:c.462G>A, XM_005249308.4:c.462G>A, XM_005249308.3:c.462G>A, XM_005249308.2:c.462G>A, XM_005249308.1:c.462G>A, XM_011514823.4:c.462G>A, XM_011514823.3:c.462G>A, XM_011514823.2:c.462G>A, XM_011514823.1:c.462G>A, NM_023932.4:c.183G>A, NM_023932.3:c.183G>A, NM_023932.2:c.183G>A, NM_206539.2:c.183G>A, NM_206539.1:c.183G>A, NM_001286656.2:c.183G>A, NM_001286656.1:c.183G>A, XM_047419265.1:c.81G>A, XM_047419264.1:c.183G>A, NM_001286655.1:c.183G>A, XM_047419263.1:c.183G>A

Select item 145661287219.

rs1456612872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:43455013 (GRCh38)
6:43422751 (GRCh37)
Canonical SPDI:: NC_000006.12:43455012:G:A
Gene:: DLK2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0./0 (GnomAD)
HGVS:: NC_000006.12:g.43455013G>A, NC_000006.11:g.43422751G>A, XM_005249308.6:c.92C>T, XM_005249308.5:c.92C>T, XM_005249308.4:c.92C>T, XM_005249308.3:c.92C>T, XM_005249308.2:c.92C>T, XM_005249308.1:c.92C>T, XM_011514823.4:c.92C>T, XM_011514823.3:c.92C>T, XM_011514823.2:c.92C>T, XM_011514823.1:c.92C>T, XP_005249365.1:p.Pro31Leu, XP_011513125.1:p.Pro31Leu

Select item 145484442620.

rs1454844426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:43450883 (GRCh38)
6:43418621 (GRCh37)
Canonical SPDI:: NC_000006.12:43450882:C:G,NC_000006.12:43450882:C:T
Gene:: DLK2 (Varview), ABCC10 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43450883C>G, NC_000006.12:g.43450883C>T, NC_000006.11:g.43418621C>G, NC_000006.11:g.43418621C>T, XM_005249308.6:c.1087G>C, XM_005249308.6:c.1087G>A, XM_005249308.5:c.1087G>C, XM_005249308.5:c.1087G>A, XM_005249308.4:c.1087G>C, XM_005249308.4:c.1087G>A, XM_005249308.3:c.1087G>C, XM_005249308.3:c.1087G>A, XM_005249308.2:c.1087G>C, XM_005249308.2:c.1087G>A, XM_005249308.1:c.1087G>C, XM_005249308.1:c.1087G>A, XM_011514823.4:c.994G>C, XM_011514823.4:c.994G>A, XM_011514823.3:c.994G>C, XM_011514823.3:c.994G>A, XM_011514823.2:c.994G>C, XM_011514823.2:c.994G>A, XM_011514823.1:c.994G>C, XM_011514823.1:c.994G>A, NM_023932.4:c.808G>C, NM_023932.4:c.808G>A, NM_023932.3:c.808G>C, NM_023932.3:c.808G>A, NM_023932.2:c.808G>C, NM_023932.2:c.808G>A, NM_206539.2:c.808G>C, NM_206539.2:c.808G>A, NM_206539.1:c.808G>C, NM_206539.1:c.808G>A, NM_001286656.2:c.790G>C, NM_001286656.2:c.790G>A, NM_001286656.1:c.790G>C, NM_001286656.1:c.790G>A, XM_047419265.1:c.706G>C, XM_047419265.1:c.706G>A, XM_047419264.1:c.715G>C, XM_047419264.1:c.715G>A, NM_001286655.1:c.697G>C, NM_001286655.1:c.697G>A, XM_047419263.1:c.715G>C, XM_047419263.1:c.715G>A, XP_005249365.1:p.Val363Leu, XP_005249365.1:p.Val363Ile, XP_011513125.1:p.Val332Leu, XP_011513125.1:p.Val332Ile, NP_076421.2:p.Val270Leu, NP_076421.2:p.Val270Ile, NP_996262.1:p.Val270Leu, NP_996262.1:p.Val270Ile, NP_001273585.1:p.Val264Leu, NP_001273585.1:p.Val264Ile, XP_047275221.1:p.Val236Leu, XP_047275221.1:p.Val236Ile, XP_047275220.1:p.Val239Leu, XP_047275220.1:p.Val239Ile, NP_001273584.1:p.Val233Leu, NP_001273584.1:p.Val233Ile, XP_047275219.1:p.Val239Leu, XP_047275219.1:p.Val239Ile

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 407

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 407

Page of 21

Page of 21

Display Settings:

Supplemental Content

Find related data

Recent activity