Canonical Allele Identifier: CA385095521

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429961-G-A
• MyVariant Identifiers: chr12:g.53823745G>A (hg19) ; chr12:g.53429961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429961G>A , CM000674.2:g.53429961G>A	GRCh38
NC_000012.11:g.53823745G>A , CM000674.1:g.53823745G>A	GRCh37
NC_000012.10:g.52110012G>A	NCBI36
NG_015981.1:g.11107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1271G>A MANE Select	ENSP00000257863.3:p.Cys424Tyr
ENST00000257863.8:c.1271G>A	ENSP00000257863.3:p.Cys424Tyr
ENST00000379791.7:c.1140+336G>A	ENSP00000369117.3:n.1140+336G>A
ENST00000550311.5:c.1271G>A	ENSP00000446661.1:p.Cys424Tyr
ENST00000550839.1:c.362G>A	ENSP00000455338.1:p.Cys121Tyr
ENST00000552233.5:n.859G>A
NM_001164690.1:c.1271G>A	NP_001158162.1:p.Cys424Tyr
NM_001164691.1:c.1140+336G>A	NP_001158163.1:n.1140+336G>A
NM_020547.2:c.1271G>A	NP_065434.1:p.Cys424Tyr
XM_011538173.1:c.1331G>A	XP_011536475.1:p.Cys444Tyr
XM_011538174.1:c.1328G>A	XP_011536476.1:p.Cys443Tyr
XM_011538175.1:c.1313G>A	XP_011536477.1:p.Cys438Tyr
XM_011538176.1:c.1274G>A	XP_011536478.1:p.Cys425Tyr
XM_011538177.1:c.1253G>A	XP_011536479.1:p.Cys418Tyr
XM_011538178.1:c.1112G>A	XP_011536480.1:p.Cys371Tyr
XM_011538179.1:c.1200+336G>A	XP_011536481.1:n.1200+336G>A
XM_011538180.1:c.998G>A	XP_011536482.1:p.Cys333Tyr
XM_011538181.1:c.995G>A	XP_011536483.1:p.Cys332Tyr
XM_011538182.1:c.920G>A	XP_011536484.1:p.Cys307Tyr
XM_011538183.1:c.1201-185G>A	XP_011536485.1:n.1201-185G>A
XM_011538184.1:c.1220+316G>A	XP_011536486.1:n.1220+316G>A
XM_011538185.1:c.856-1216G>A	XP_011536487.1:n.856-1216G>A
XM_011538186.1:c.446G>A	XP_011536488.1:p.Cys149Tyr
NM_001164690.2:c.1271G>A	NP_001158162.1:p.Cys424Tyr
NM_001164691.2:c.1140+336G>A	NP_001158163.1:n.1140+336G>A
NM_020547.3:c.1271G>A MANE Select	NP_065434.1:p.Cys424Tyr
XM_011538183.2:c.1201-185G>A	XP_011536485.1:n.1201-185G>A
XM_011538184.2:c.1220+316G>A	XP_011536486.1:n.1220+316G>A
XM_011538186.3:c.446G>A	XP_011536488.1:p.Cys149Tyr
XM_017019179.2:c.1331G>A	XP_016874668.1:p.Cys444Tyr
XM_024448938.1:c.1143+336G>A	XP_024304706.1:n.1143+336G>A
XR_002957309.1:n.1239G>A
XR_002957310.1:n.1109-185G>A
XR_002957311.1:n.1239G>A
XR_002957312.1:n.1108+336G>A