Canonical Allele Identifier: CA385095331

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429916-A-T
• MyVariant Identifiers: chr12:g.53823700A>T (hg19) ; chr12:g.53429916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429916A>T , CM000674.2:g.53429916A>T	GRCh38
NC_000012.11:g.53823700A>T , CM000674.1:g.53823700A>T	GRCh37
NC_000012.10:g.52109967A>T	NCBI36
NG_015981.1:g.11062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1226A>T MANE Select	ENSP00000257863.3:p.Asp409Val
ENST00000257863.8:c.1226A>T	ENSP00000257863.3:p.Asp409Val
ENST00000379791.7:c.1140+291A>T	ENSP00000369117.3:n.1140+291A>T
ENST00000550311.5:c.1226A>T	ENSP00000446661.1:p.Asp409Val
ENST00000550839.1:c.317A>T	ENSP00000455338.1:p.Asp106Val
ENST00000552233.5:n.814A>T
NM_001164690.1:c.1226A>T	NP_001158162.1:p.Asp409Val
NM_001164691.1:c.1140+291A>T	NP_001158163.1:n.1140+291A>T
NM_020547.2:c.1226A>T	NP_065434.1:p.Asp409Val
XM_011538173.1:c.1286A>T	XP_011536475.1:p.Asp429Val
XM_011538174.1:c.1283A>T	XP_011536476.1:p.Asp428Val
XM_011538175.1:c.1268A>T	XP_011536477.1:p.Asp423Val
XM_011538176.1:c.1229A>T	XP_011536478.1:p.Asp410Val
XM_011538177.1:c.1208A>T	XP_011536479.1:p.Asp403Val
XM_011538178.1:c.1067A>T	XP_011536480.1:p.Asp356Val
XM_011538179.1:c.1200+291A>T	XP_011536481.1:n.1200+291A>T
XM_011538180.1:c.953A>T	XP_011536482.1:p.Asp318Val
XM_011538181.1:c.950A>T	XP_011536483.1:p.Asp317Val
XM_011538182.1:c.875A>T	XP_011536484.1:p.Asp292Val
XM_011538183.1:c.1201-230A>T	XP_011536485.1:n.1201-230A>T
XM_011538184.1:c.1220+271A>T	XP_011536486.1:n.1220+271A>T
XM_011538185.1:c.856-1261A>T	XP_011536487.1:n.856-1261A>T
XM_011538186.1:c.401A>T	XP_011536488.1:p.Asp134Val
NM_001164690.2:c.1226A>T	NP_001158162.1:p.Asp409Val
NM_001164691.2:c.1140+291A>T	NP_001158163.1:n.1140+291A>T
NM_020547.3:c.1226A>T MANE Select	NP_065434.1:p.Asp409Val
XM_011538183.2:c.1201-230A>T	XP_011536485.1:n.1201-230A>T
XM_011538184.2:c.1220+271A>T	XP_011536486.1:n.1220+271A>T
XM_011538186.3:c.401A>T	XP_011536488.1:p.Asp134Val
XM_017019179.2:c.1286A>T	XP_016874668.1:p.Asp429Val
XM_024448938.1:c.1143+291A>T	XP_024304706.1:n.1143+291A>T
XR_002957309.1:n.1194A>T
XR_002957310.1:n.1109-230A>T
XR_002957311.1:n.1194A>T
XR_002957312.1:n.1108+291A>T