SNP Links for Protein (Select 261878575) - SNP

Select item 14825950761.

rs1482595076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50252452 (GRCh38)
3:50289884 (GRCh37)
Canonical SPDI:: NC_000003.12:50252451:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50252452G>A, NW_003871059.1:g.22300G>A, NG_016002.2:g.30765G>A, NM_002070.4:c.217G>A, NM_002070.3:c.217G>A, NM_002070.2:c.217G>A, NM_001282617.2:c.61G>A, NM_001282617.1:c.61G>A, NM_001282619.2:c.169G>A, NM_001282619.1:c.169G>A, NM_001282618.2:c.-27G>A, NM_001282618.1:c.-27G>A, NM_001166425.2:c.106G>A, NM_001166425.1:c.106G>A, NM_001282620.2:c.169G>A, NM_001282620.1:c.169G>A, NC_000003.11:g.50289884G>A, XR_007095663.1:n.349G>A, XM_047447979.1:c.217G>A, NP_002061.1:p.Val73Ile, NP_001269546.1:p.Val21Ile, NP_001269548.1:p.Val57Ile, NP_001159897.1:p.Val36Ile, NP_001269549.1:p.Val57Ile, XP_047303935.1:p.Val73Ile

Select item 14737218392.

rs1473721839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50256840 (GRCh38)
3:50294272 (GRCh37)
Canonical SPDI:: NC_000003.12:50256839:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.50256840G>A, NW_003871059.1:g.26688G>A, NG_016002.2:g.35153G>A, NM_002070.4:c.711G>A, NM_002070.3:c.711G>A, NM_002070.2:c.711G>A, NM_001282617.2:c.555G>A, NM_001282617.1:c.555G>A, NM_001282619.2:c.663G>A, NM_001282619.1:c.663G>A, NM_001282618.2:c.468G>A, NM_001282618.1:c.468G>A, NM_001166425.2:c.600G>A, NM_001166425.1:c.600G>A, NM_001282620.2:c.663G>A, NM_001282620.1:c.663G>A, NC_000003.11:g.50294272G>A, XR_007095663.1:n.843G>A, XM_047447979.1:c.711G>A

Select item 14644274833.

rs1464427483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50257042 (GRCh38)
3:50294474 (GRCh37)
Canonical SPDI:: NC_000003.12:50257041:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000043/6 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000003.12:g.50257042G>A, NW_003871059.1:g.26890G>A, NG_016002.2:g.35355G>A, NM_002070.4:c.829G>A, NM_002070.3:c.829G>A, NM_002070.2:c.829G>A, NM_001282617.2:c.673G>A, NM_001282617.1:c.673G>A, NM_001282619.2:c.781G>A, NM_001282619.1:c.781G>A, NM_001282618.2:c.586G>A, NM_001282618.1:c.586G>A, NM_001166425.2:c.718G>A, NM_001166425.1:c.718G>A, NM_001282620.2:c.781G>A, NM_001282620.1:c.781G>A, NC_000003.11:g.50294474G>A, XR_007095663.1:n.961G>A, XM_047447979.1:c.829G>A, NP_002061.1:p.Glu277Lys, NP_001269546.1:p.Glu225Lys, NP_001269548.1:p.Glu261Lys, NP_001269547.1:p.Glu196Lys, NP_001159897.1:p.Glu240Lys, NP_001269549.1:p.Glu261Lys, XP_047303935.1:p.Glu277Lys

Select item 14630680794.

rs1463068079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50257637 (GRCh38)
3:50295069 (GRCh37)
Canonical SPDI:: NC_000003.12:50257636:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50257637G>A, NW_003871059.1:g.27485G>A, NG_016002.2:g.35950G>A, NM_002070.4:c.1015G>A, NM_002070.3:c.1015G>A, NM_002070.2:c.1015G>A, NM_001282617.2:c.859G>A, NM_001282617.1:c.859G>A, NM_001282619.2:c.967G>A, NM_001282619.1:c.967G>A, NM_001282618.2:c.772G>A, NM_001282618.1:c.772G>A, NM_001166425.2:c.904G>A, NM_001166425.1:c.904G>A, NM_001282620.2:c.967G>A, NM_001282620.1:c.967G>A, NC_000003.11:g.50295069G>A, XR_007095663.1:n.1147G>A, XM_047447979.1:c.1015G>A, NP_002061.1:p.Ala339Thr, NP_001269546.1:p.Ala287Thr, NP_001269548.1:p.Ala323Thr, NP_001269547.1:p.Ala258Thr, NP_001159897.1:p.Ala302Thr, NP_001269549.1:p.Ala323Thr, XP_047303935.1:p.Ala339Thr

Select item 14502993095.

rs1450299309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50256276 (GRCh38)
3:50293708 (GRCh37)
Canonical SPDI:: NC_000003.12:50256275:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50256276G>A, NW_003871059.1:g.26124G>A, NG_016002.2:g.34589G>A, NM_002070.4:c.549G>A, NM_002070.3:c.549G>A, NM_002070.2:c.549G>A, NM_001282617.2:c.393G>A, NM_001282617.1:c.393G>A, NM_001282619.2:c.501G>A, NM_001282619.1:c.501G>A, NM_001282618.2:c.306G>A, NM_001282618.1:c.306G>A, NM_001166425.2:c.438G>A, NM_001166425.1:c.438G>A, NM_001282620.2:c.501G>A, NM_001282620.1:c.501G>A, NC_000003.11:g.50293708G>A, XR_007095663.1:n.681G>A, XM_047447979.1:c.549G>A

Select item 14430340476.

rs1443034047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:50257556 (GRCh38)
3:50294988 (GRCh37)
Canonical SPDI:: NC_000003.12:50257555:A:G,NC_000003.12:50257555:A:T
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
T=0./0 (KOREAN)
HGVS:: NC_000003.12:g.50257556A>G, NC_000003.12:g.50257556A>T, NW_003871059.1:g.27404A>G, NW_003871059.1:g.27404A>T, NG_016002.2:g.35869A>G, NG_016002.2:g.35869A>T, NM_002070.4:c.934A>G, NM_002070.4:c.934A>T, NM_002070.3:c.934A>G, NM_002070.3:c.934A>T, NM_002070.2:c.934A>G, NM_002070.2:c.934A>T, NM_001282617.2:c.778A>G, NM_001282617.2:c.778A>T, NM_001282617.1:c.778A>G, NM_001282617.1:c.778A>T, NM_001282619.2:c.886A>G, NM_001282619.2:c.886A>T, NM_001282619.1:c.886A>G, NM_001282619.1:c.886A>T, NM_001282618.2:c.691A>G, NM_001282618.2:c.691A>T, NM_001282618.1:c.691A>G, NM_001282618.1:c.691A>T, NM_001166425.2:c.823A>G, NM_001166425.2:c.823A>T, NM_001166425.1:c.823A>G, NM_001166425.1:c.823A>T, NM_001282620.2:c.886A>G, NM_001282620.2:c.886A>T, NM_001282620.1:c.886A>G, NM_001282620.1:c.886A>T, NC_000003.11:g.50294988A>G, NC_000003.11:g.50294988A>T, XR_007095663.1:n.1066A>G, XR_007095663.1:n.1066A>T, XM_047447979.1:c.934A>G, XM_047447979.1:c.934A>T, NP_002061.1:p.Asn312Asp, NP_002061.1:p.Asn312Tyr, NP_001269546.1:p.Asn260Asp, NP_001269546.1:p.Asn260Tyr, NP_001269548.1:p.Asn296Asp, NP_001269548.1:p.Asn296Tyr, NP_001269547.1:p.Asn231Asp, NP_001269547.1:p.Asn231Tyr, NP_001159897.1:p.Asn275Asp, NP_001159897.1:p.Asn275Tyr, NP_001269549.1:p.Asn296Asp, NP_001269549.1:p.Asn296Tyr, XP_047303935.1:p.Asn312Asp, XP_047303935.1:p.Asn312Tyr

Select item 14424270437.

rs1442427043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50256205 (GRCh38)
3:50293637 (GRCh37)
Canonical SPDI:: NC_000003.12:50256204:C:T
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000003.12:g.50256205C>T, NW_003871059.1:g.26053C>T, NG_016002.2:g.34518C>T, NM_002070.4:c.478C>T, NM_002070.3:c.478C>T, NM_002070.2:c.478C>T, NM_001282617.2:c.322C>T, NM_001282617.1:c.322C>T, NM_001282619.2:c.430C>T, NM_001282619.1:c.430C>T, NM_001282618.2:c.235C>T, NM_001282618.1:c.235C>T, NM_001166425.2:c.367C>T, NM_001166425.1:c.367C>T, NM_001282620.2:c.430C>T, NM_001282620.1:c.430C>T, NC_000003.11:g.50293637C>T, XR_007095663.1:n.610C>T, XM_047447979.1:c.478C>T

Select item 14388194008.

rs1438819400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50252433 (GRCh38)
3:50289865 (GRCh37)
Canonical SPDI:: NC_000003.12:50252432:C:T
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50252433C>T, NW_003871059.1:g.22281C>T, NG_016002.2:g.30746C>T, NM_002070.4:c.198C>T, NM_002070.3:c.198C>T, NM_002070.2:c.198C>T, NM_001282617.2:c.42C>T, NM_001282617.1:c.42C>T, NM_001282619.2:c.150C>T, NM_001282619.1:c.150C>T, NM_001282618.2:c.-46C>T, NM_001282618.1:c.-46C>T, NM_001166425.2:c.87C>T, NM_001166425.1:c.87C>T, NM_001282620.2:c.150C>T, NM_001282620.1:c.150C>T, NC_000003.11:g.50289865C>T, XR_007095663.1:n.330C>T, XM_047447979.1:c.198C>T

Select item 14359566659.

rs1435956665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50253155 (GRCh38)
3:50290587 (GRCh37)
Canonical SPDI:: NC_000003.12:50253154:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50253155G>A, NW_003871059.1:g.23003G>A, NG_016002.2:g.31468G>A, NM_002070.4:c.435G>A, NM_002070.3:c.435G>A, NM_002070.2:c.435G>A, NM_001282617.2:c.279G>A, NM_001282617.1:c.279G>A, NM_001282619.2:c.387G>A, NM_001282619.1:c.387G>A, NM_001282618.2:c.192G>A, NM_001282618.1:c.192G>A, NM_001166425.2:c.324G>A, NM_001166425.1:c.324G>A, NM_001282620.2:c.387G>A, NM_001282620.1:c.387G>A, NC_000003.11:g.50290587G>A, XR_007095663.1:n.567G>A, XM_047447979.1:c.435G>A

Select item 142295767010.

rs1422957670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50252128 (GRCh38)
3:50289560 (GRCh37)
Canonical SPDI:: NC_000003.12:50252127:C:T
Gene:: GNAI2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50252128C>T, NW_003871059.1:g.21976C>T, NG_016002.2:g.30441C>T, NM_002070.4:c.147C>T, NM_002070.3:c.147C>T, NM_002070.2:c.147C>T, NM_001282617.2:c.-10C>T, NM_001282617.1:c.-10C>T, NM_001282619.2:c.99C>T, NM_001282619.1:c.99C>T, NM_001166425.2:c.36C>T, NM_001166425.1:c.36C>T, NM_001282620.2:c.99C>T, NM_001282620.1:c.99C>T, NC_000003.11:g.50289560C>T, XR_007095663.1:n.279C>T, XM_047447979.1:c.147C>T

Select item 140670673111.

rs1406706731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:50257575 (GRCh38)
3:50295007 (GRCh37)
Canonical SPDI:: NC_000003.12:50257574:A:C
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00497/59 (ALFA)
C=0./0 (KOREAN)
C=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.50257575A>C, NW_003871059.1:g.27423A>C, NG_016002.2:g.35888A>C, NM_002070.4:c.953A>C, NM_002070.3:c.953A>C, NM_002070.2:c.953A>C, NM_001282617.2:c.797A>C, NM_001282617.1:c.797A>C, NM_001282619.2:c.905A>C, NM_001282619.1:c.905A>C, NM_001282618.2:c.710A>C, NM_001282618.1:c.710A>C, NM_001166425.2:c.842A>C, NM_001166425.1:c.842A>C, NM_001282620.2:c.905A>C, NM_001282620.1:c.905A>C, NC_000003.11:g.50295007A>C, XR_007095663.1:n.1085A>C, XM_047447979.1:c.953A>C, NP_002061.1:p.Lys318Thr, NP_001269546.1:p.Lys266Thr, NP_001269548.1:p.Lys302Thr, NP_001269547.1:p.Lys237Thr, NP_001159897.1:p.Lys281Thr, NP_001269549.1:p.Lys302Thr, XP_047303935.1:p.Lys318Thr

Select item 139436282912.

rs1394362829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50252514 (GRCh38)
3:50289946 (GRCh37)
Canonical SPDI:: NC_000003.12:50252513:C:T
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000003.12:g.50252514C>T, NW_003871059.1:g.22362C>T, NG_016002.2:g.30827C>T, NM_002070.4:c.279C>T, NM_002070.3:c.279C>T, NM_002070.2:c.279C>T, NM_001282617.2:c.123C>T, NM_001282617.1:c.123C>T, NM_001282619.2:c.231C>T, NM_001282619.1:c.231C>T, NM_001282618.2:c.36C>T, NM_001282618.1:c.36C>T, NM_001166425.2:c.168C>T, NM_001166425.1:c.168C>T, NM_001282620.2:c.231C>T, NM_001282620.1:c.231C>T, NC_000003.11:g.50289946C>T, XR_007095663.1:n.411C>T, XM_047447979.1:c.279C>T

Select item 137928744513.

rs1379287445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50252407 (GRCh38)
3:50289839 (GRCh37)
Canonical SPDI:: NC_000003.12:50252406:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50252407G>A, NW_003871059.1:g.22255G>A, NG_016002.2:g.30720G>A, NM_002070.4:c.172G>A, NM_002070.3:c.172G>A, NM_002070.2:c.172G>A, NM_001282617.2:c.16G>A, NM_001282617.1:c.16G>A, NM_001282619.2:c.124G>A, NM_001282619.1:c.124G>A, NM_001282618.2:c.-72G>A, NM_001282618.1:c.-72G>A, NM_001166425.2:c.61G>A, NM_001166425.1:c.61G>A, NM_001282620.2:c.124G>A, NM_001282620.1:c.124G>A, NC_000003.11:g.50289839G>A, XR_007095663.1:n.304G>A, XM_047447979.1:c.172G>A, NP_002061.1:p.Glu58Lys, NP_001269546.1:p.Glu6Lys, NP_001269548.1:p.Glu42Lys, NP_001159897.1:p.Glu21Lys, NP_001269549.1:p.Glu42Lys, XP_047303935.1:p.Glu58Lys

Select item 135651630314.

rs1356516303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:50253057 (GRCh38)
3:50290489 (GRCh37)
Canonical SPDI:: NC_000003.12:50253056:A:C,NC_000003.12:50253056:A:G
Gene:: GNAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00437/8 (Korea1K)
HGVS:: NC_000003.12:g.50253057A>C, NC_000003.12:g.50253057A>G, NW_003871059.1:g.22905A>C, NW_003871059.1:g.22905A>G, NG_016002.2:g.31370A>C, NG_016002.2:g.31370A>G, NM_002070.4:c.337A>C, NM_002070.4:c.337A>G, NM_002070.3:c.337A>C, NM_002070.3:c.337A>G, NM_002070.2:c.337A>C, NM_002070.2:c.337A>G, NM_001282617.2:c.181A>C, NM_001282617.2:c.181A>G, NM_001282617.1:c.181A>C, NM_001282617.1:c.181A>G, NM_001282619.2:c.289A>C, NM_001282619.2:c.289A>G, NM_001282619.1:c.289A>C, NM_001282619.1:c.289A>G, NM_001282618.2:c.94A>C, NM_001282618.2:c.94A>G, NM_001282618.1:c.94A>C, NM_001282618.1:c.94A>G, NM_001166425.2:c.226A>C, NM_001166425.2:c.226A>G, NM_001166425.1:c.226A>C, NM_001166425.1:c.226A>G, NM_001282620.2:c.289A>C, NM_001282620.2:c.289A>G, NM_001282620.1:c.289A>C, NM_001282620.1:c.289A>G, NC_000003.11:g.50290489A>C, NC_000003.11:g.50290489A>G, XR_007095663.1:n.469A>C, XR_007095663.1:n.469A>G, XM_047447979.1:c.337A>C, XM_047447979.1:c.337A>G, NP_002061.1:p.Thr113Pro, NP_002061.1:p.Thr113Ala, NP_001269546.1:p.Thr61Pro, NP_001269546.1:p.Thr61Ala, NP_001269548.1:p.Thr97Pro, NP_001269548.1:p.Thr97Ala, NP_001269547.1:p.Thr32Pro, NP_001269547.1:p.Thr32Ala, NP_001159897.1:p.Thr76Pro, NP_001159897.1:p.Thr76Ala, NP_001269549.1:p.Thr97Pro, NP_001269549.1:p.Thr97Ala, XP_047303935.1:p.Thr113Pro, XP_047303935.1:p.Thr113Ala

Select item 135340525115.

rs1353405251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50252479 (GRCh38)
3:50289911 (GRCh37)
Canonical SPDI:: NC_000003.12:50252478:A:G
Gene:: GNAI2 (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.50252479A>G, NW_003871059.1:g.22327A>G, NG_016002.2:g.30792A>G, NM_002070.4:c.244A>G, NM_002070.3:c.244A>G, NM_002070.2:c.244A>G, NM_001282617.2:c.88A>G, NM_001282617.1:c.88A>G, NM_001282619.2:c.196A>G, NM_001282619.1:c.196A>G, NM_001282618.2:c.1A>G, NM_001282618.1:c.1A>G, NM_001166425.2:c.133A>G, NM_001166425.1:c.133A>G, NM_001282620.2:c.196A>G, NM_001282620.1:c.196A>G, NC_000003.11:g.50289911A>G, XR_007095663.1:n.376A>G, XM_047447979.1:c.244A>G, NP_002061.1:p.Met82Val, NP_001269546.1:p.Met30Val, NP_001269548.1:p.Met66Val, NP_001269547.1:p.Met1Val, NP_001159897.1:p.Met45Val, NP_001269549.1:p.Met66Val, XP_047303935.1:p.Met82Val

Select item 135069588916.

rs1350695889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:50256796 (GRCh38)
3:50294228 (GRCh37)
Canonical SPDI:: NC_000003.12:50256795:A:C,NC_000003.12:50256795:A:G
Gene:: GNAI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000003.12:g.50256796A>C, NC_000003.12:g.50256796A>G, NW_003871059.1:g.26644A>C, NW_003871059.1:g.26644A>G, NG_016002.2:g.35109A>C, NG_016002.2:g.35109A>G, NM_002070.4:c.667A>C, NM_002070.4:c.667A>G, NM_002070.3:c.667A>C, NM_002070.3:c.667A>G, NM_002070.2:c.667A>C, NM_002070.2:c.667A>G, NM_001282617.2:c.511A>C, NM_001282617.2:c.511A>G, NM_001282617.1:c.511A>C, NM_001282617.1:c.511A>G, NM_001282619.2:c.619A>C, NM_001282619.2:c.619A>G, NM_001282619.1:c.619A>C, NM_001282619.1:c.619A>G, NM_001282618.2:c.424A>C, NM_001282618.2:c.424A>G, NM_001282618.1:c.424A>C, NM_001282618.1:c.424A>G, NM_001166425.2:c.556A>C, NM_001166425.2:c.556A>G, NM_001166425.1:c.556A>C, NM_001166425.1:c.556A>G, NM_001282620.2:c.619A>C, NM_001282620.2:c.619A>G, NM_001282620.1:c.619A>C, NM_001282620.1:c.619A>G, NC_000003.11:g.50294228A>C, NC_000003.11:g.50294228A>G, XR_007095663.1:n.799A>C, XR_007095663.1:n.799A>G, XM_047447979.1:c.667A>C, XM_047447979.1:c.667A>G, NP_002061.1:p.Ile223Leu, NP_002061.1:p.Ile223Val, NP_001269546.1:p.Ile171Leu, NP_001269546.1:p.Ile171Val, NP_001269548.1:p.Ile207Leu, NP_001269548.1:p.Ile207Val, NP_001269547.1:p.Ile142Leu, NP_001269547.1:p.Ile142Val, NP_001159897.1:p.Ile186Leu, NP_001159897.1:p.Ile186Val, NP_001269549.1:p.Ile207Leu, NP_001269549.1:p.Ile207Val, XP_047303935.1:p.Ile223Leu, XP_047303935.1:p.Ile223Val

Select item 134722942117.

rs1347229421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50253063 (GRCh38)
3:50290495 (GRCh37)
Canonical SPDI:: NC_000003.12:50253062:G:A
Gene:: GNAI2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50253063G>A, NW_003871059.1:g.22911G>A, NG_016002.2:g.31376G>A, NM_002070.4:c.343G>A, NM_002070.3:c.343G>A, NM_002070.2:c.343G>A, NM_001282617.2:c.187G>A, NM_001282617.1:c.187G>A, NM_001282619.2:c.295G>A, NM_001282619.1:c.295G>A, NM_001282618.2:c.100G>A, NM_001282618.1:c.100G>A, NM_001166425.2:c.232G>A, NM_001166425.1:c.232G>A, NM_001282620.2:c.295G>A, NM_001282620.1:c.295G>A, NC_000003.11:g.50290495G>A, XR_007095663.1:n.475G>A, XM_047447979.1:c.343G>A, NP_002061.1:p.Glu115Lys, NP_001269546.1:p.Glu63Lys, NP_001269548.1:p.Glu99Lys, NP_001269547.1:p.Glu34Lys, NP_001159897.1:p.Glu78Lys, NP_001269549.1:p.Glu99Lys, XP_047303935.1:p.Glu115Lys

Select item 134000374118.

rs1340003741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:50257557 (GRCh38)
3:50294989 (GRCh37)
Canonical SPDI:: NC_000003.12:50257556:A:T
Gene:: GNAI2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
T=0./0 (KOREAN)
HGVS:: NC_000003.12:g.50257557A>T, NW_003871059.1:g.27405A>T, NG_016002.2:g.35870A>T, NM_002070.4:c.935A>T, NM_002070.3:c.935A>T, NM_002070.2:c.935A>T, NM_001282617.2:c.779A>T, NM_001282617.1:c.779A>T, NM_001282619.2:c.887A>T, NM_001282619.1:c.887A>T, NM_001282618.2:c.692A>T, NM_001282618.1:c.692A>T, NM_001166425.2:c.824A>T, NM_001166425.1:c.824A>T, NM_001282620.2:c.887A>T, NM_001282620.1:c.887A>T, NC_000003.11:g.50294989A>T, XR_007095663.1:n.1067A>T, XM_047447979.1:c.935A>T, NP_002061.1:p.Asn312Ile, NP_001269546.1:p.Asn260Ile, NP_001269548.1:p.Asn296Ile, NP_001269547.1:p.Asn231Ile, NP_001159897.1:p.Asn275Ile, NP_001269549.1:p.Asn296Ile, XP_047303935.1:p.Asn312Ile

Select item 133227287919.

rs1332272879 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAGAC>- [Show Flanks]
Chromosome:: 3:50257564 (GRCh38)
3:50294996 (GRCh37)
Canonical SPDI:: NC_000003.12:50257563:CAAAGAC:
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0001/2 (ALFA)
HGVS:: NC_000003.12:g.50257564_50257570del, NW_003871059.1:g.27412_27418del, NG_016002.2:g.35877_35883del, NM_002070.4:c.942_948del, NM_002070.3:c.942_948del, NM_002070.2:c.942_948del, NM_001282617.2:c.786_792del, NM_001282617.1:c.786_792del, NM_001282619.2:c.894_900del, NM_001282619.1:c.894_900del, NM_001282618.2:c.699_705del, NM_001282618.1:c.699_705del, NM_001166425.2:c.831_837del, NM_001166425.1:c.831_837del, NM_001282620.2:c.894_900del, NM_001282620.1:c.894_900del, NC_000003.11:g.50294996_50295002del, XR_007095663.1:n.1074_1080del, XM_047447979.1:c.942_948del, NP_002061.1:p.Lys315fs, NP_001269546.1:p.Lys263fs, NP_001269548.1:p.Lys299fs, NP_001269547.1:p.Lys234fs, NP_001159897.1:p.Lys278fs, NP_001269549.1:p.Lys299fs, XP_047303935.1:p.Lys315fs

Select item 132737680520.

rs1327376805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:50257553 (GRCh38)
3:50294985 (GRCh37)
Canonical SPDI:: NC_000003.12:50257552:C:A,NC_000003.12:50257552:C:T
Gene:: GNAI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00012/2 (TOMMO)
HGVS:: NC_000003.12:g.50257553C>A, NC_000003.12:g.50257553C>T, NW_003871059.1:g.27401C>A, NW_003871059.1:g.27401C>T, NG_016002.2:g.35866C>A, NG_016002.2:g.35866C>T, NM_002070.4:c.931C>A, NM_002070.4:c.931C>T, NM_002070.3:c.931C>A, NM_002070.3:c.931C>T, NM_002070.2:c.931C>A, NM_002070.2:c.931C>T, NM_001282617.2:c.775C>A, NM_001282617.2:c.775C>T, NM_001282617.1:c.775C>A, NM_001282617.1:c.775C>T, NM_001282619.2:c.883C>A, NM_001282619.2:c.883C>T, NM_001282619.1:c.883C>A, NM_001282619.1:c.883C>T, NM_001282618.2:c.688C>A, NM_001282618.2:c.688C>T, NM_001282618.1:c.688C>A, NM_001282618.1:c.688C>T, NM_001166425.2:c.820C>A, NM_001166425.2:c.820C>T, NM_001166425.1:c.820C>A, NM_001166425.1:c.820C>T, NM_001282620.2:c.883C>A, NM_001282620.2:c.883C>T, NM_001282620.1:c.883C>A, NM_001282620.1:c.883C>T, NC_000003.11:g.50294985C>A, NC_000003.11:g.50294985C>T, XR_007095663.1:n.1063C>A, XR_007095663.1:n.1063C>T, XM_047447979.1:c.931C>A, XM_047447979.1:c.931C>T, NP_002061.1:p.Leu311Met, NP_001269546.1:p.Leu259Met, NP_001269548.1:p.Leu295Met, NP_001269547.1:p.Leu230Met, NP_001159897.1:p.Leu274Met, NP_001269549.1:p.Leu295Met, XP_047303935.1:p.Leu311Met

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