Canonical Allele Identifier: CA6600543

Gene: AMHR2

Linked Data

• dbSNP Id: rs770825160
• ExAC: 12:53823618 G / A
• gnomAD v2: 12-53823618-G-A
• gnomAD v3: 12-53429834-G-A
• gnomAD v4: 12-53429834-G-A
• MyVariant Identifiers: chr12:g.53823618G>A (hg19) ; chr12:g.53429834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429834G>A , CM000674.2:g.53429834G>A	GRCh38
NC_000012.11:g.53823618G>A , CM000674.1:g.53823618G>A	GRCh37
NC_000012.10:g.52109885G>A	NCBI36
NG_015981.1:g.10980G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1144G>A MANE Select	ENSP00000257863.3:p.Gly382Ser
ENST00000257863.8:c.1144G>A	ENSP00000257863.3:p.Gly382Ser
ENST00000379791.7:c.1140+209G>A	ENSP00000369117.3:n.1140+209G>A
ENST00000550311.5:c.1144G>A	ENSP00000446661.1:p.Gly382Ser
ENST00000550839.1:c.235G>A	ENSP00000455338.1:p.Gly79Ser
ENST00000552233.5:n.732G>A
NM_001164690.1:c.1144G>A	NP_001158162.1:p.Gly382Ser
NM_001164691.1:c.1140+209G>A	NP_001158163.1:n.1140+209G>A
NM_020547.2:c.1144G>A	NP_065434.1:p.Gly382Ser
XM_011538173.1:c.1204G>A	XP_011536475.1:p.Gly402Ser
XM_011538174.1:c.1201G>A	XP_011536476.1:p.Gly401Ser
XM_011538175.1:c.1186G>A	XP_011536477.1:p.Gly396Ser
XM_011538176.1:c.1147G>A	XP_011536478.1:p.Gly383Ser
XM_011538177.1:c.1126G>A	XP_011536479.1:p.Gly376Ser
XM_011538178.1:c.985G>A	XP_011536480.1:p.Gly329Ser
XM_011538179.1:c.1200+209G>A	XP_011536481.1:n.1200+209G>A
XM_011538180.1:c.871G>A	XP_011536482.1:p.Gly291Ser
XM_011538181.1:c.868G>A	XP_011536483.1:p.Gly290Ser
XM_011538182.1:c.793G>A	XP_011536484.1:p.Gly265Ser
XM_011538183.1:c.1200+209G>A	XP_011536485.1:n.1200+209G>A
XM_011538184.1:c.1220+189G>A	XP_011536486.1:n.1220+189G>A
XM_011538185.1:c.856-1343G>A	XP_011536487.1:n.856-1343G>A
XM_011538186.1:c.319G>A	XP_011536488.1:p.Gly107Ser
NM_001164690.2:c.1144G>A	NP_001158162.1:p.Gly382Ser
NM_001164691.2:c.1140+209G>A	NP_001158163.1:n.1140+209G>A
NM_020547.3:c.1144G>A MANE Select	NP_065434.1:p.Gly382Ser
XM_011538183.2:c.1200+209G>A	XP_011536485.1:n.1200+209G>A
XM_011538184.2:c.1220+189G>A	XP_011536486.1:n.1220+189G>A
XM_011538186.3:c.319G>A	XP_011536488.1:p.Gly107Ser
XM_017019179.2:c.1204G>A	XP_016874668.1:p.Gly402Ser
XM_024448938.1:c.1143+209G>A	XP_024304706.1:n.1143+209G>A
XR_002957309.1:n.1112G>A
XR_002957310.1:n.1108+209G>A
XR_002957311.1:n.1112G>A
XR_002957312.1:n.1108+209G>A