Canonical Allele Identifier: CA385094991

Gene: AMHR2

Linked Data

• dbSNP Id: rs1939956923
• gnomAD v4: 12-53429835-G-A
• MyVariant Identifiers: chr12:g.53823619G>A (hg19) ; chr12:g.53429835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429835G>A , CM000674.2:g.53429835G>A	GRCh38
NC_000012.11:g.53823619G>A , CM000674.1:g.53823619G>A	GRCh37
NC_000012.10:g.52109886G>A	NCBI36
NG_015981.1:g.10981G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1145G>A MANE Select	ENSP00000257863.3:p.Gly382Asp
ENST00000257863.8:c.1145G>A	ENSP00000257863.3:p.Gly382Asp
ENST00000379791.7:c.1140+210G>A	ENSP00000369117.3:n.1140+210G>A
ENST00000550311.5:c.1145G>A	ENSP00000446661.1:p.Gly382Asp
ENST00000550839.1:c.236G>A	ENSP00000455338.1:p.Gly79Asp
ENST00000552233.5:n.733G>A
NM_001164690.1:c.1145G>A	NP_001158162.1:p.Gly382Asp
NM_001164691.1:c.1140+210G>A	NP_001158163.1:n.1140+210G>A
NM_020547.2:c.1145G>A	NP_065434.1:p.Gly382Asp
XM_011538173.1:c.1205G>A	XP_011536475.1:p.Gly402Asp
XM_011538174.1:c.1202G>A	XP_011536476.1:p.Gly401Asp
XM_011538175.1:c.1187G>A	XP_011536477.1:p.Gly396Asp
XM_011538176.1:c.1148G>A	XP_011536478.1:p.Gly383Asp
XM_011538177.1:c.1127G>A	XP_011536479.1:p.Gly376Asp
XM_011538178.1:c.986G>A	XP_011536480.1:p.Gly329Asp
XM_011538179.1:c.1200+210G>A	XP_011536481.1:n.1200+210G>A
XM_011538180.1:c.872G>A	XP_011536482.1:p.Gly291Asp
XM_011538181.1:c.869G>A	XP_011536483.1:p.Gly290Asp
XM_011538182.1:c.794G>A	XP_011536484.1:p.Gly265Asp
XM_011538183.1:c.1200+210G>A	XP_011536485.1:n.1200+210G>A
XM_011538184.1:c.1220+190G>A	XP_011536486.1:n.1220+190G>A
XM_011538185.1:c.856-1342G>A	XP_011536487.1:n.856-1342G>A
XM_011538186.1:c.320G>A	XP_011536488.1:p.Gly107Asp
NM_001164690.2:c.1145G>A	NP_001158162.1:p.Gly382Asp
NM_001164691.2:c.1140+210G>A	NP_001158163.1:n.1140+210G>A
NM_020547.3:c.1145G>A MANE Select	NP_065434.1:p.Gly382Asp
XM_011538183.2:c.1200+210G>A	XP_011536485.1:n.1200+210G>A
XM_011538184.2:c.1220+190G>A	XP_011536486.1:n.1220+190G>A
XM_011538186.3:c.320G>A	XP_011536488.1:p.Gly107Asp
XM_017019179.2:c.1205G>A	XP_016874668.1:p.Gly402Asp
XM_024448938.1:c.1143+210G>A	XP_024304706.1:n.1143+210G>A
XR_002957309.1:n.1113G>A
XR_002957310.1:n.1108+210G>A
XR_002957311.1:n.1113G>A
XR_002957312.1:n.1108+210G>A