Canonical Allele Identifier: CA385095452

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429945-G-C
• MyVariant Identifiers: chr12:g.53823729G>C (hg19) ; chr12:g.53429945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429945G>C , CM000674.2:g.53429945G>C	GRCh38
NC_000012.11:g.53823729G>C , CM000674.1:g.53823729G>C	GRCh37
NC_000012.10:g.52109996G>C	NCBI36
NG_015981.1:g.11091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1255G>C MANE Select	ENSP00000257863.3:p.Glu419Gln
ENST00000257863.8:c.1255G>C	ENSP00000257863.3:p.Glu419Gln
ENST00000379791.7:c.1140+320G>C	ENSP00000369117.3:n.1140+320G>C
ENST00000550311.5:c.1255G>C	ENSP00000446661.1:p.Glu419Gln
ENST00000550839.1:c.346G>C	ENSP00000455338.1:p.Glu116Gln
ENST00000552233.5:n.843G>C
NM_001164690.1:c.1255G>C	NP_001158162.1:p.Glu419Gln
NM_001164691.1:c.1140+320G>C	NP_001158163.1:n.1140+320G>C
NM_020547.2:c.1255G>C	NP_065434.1:p.Glu419Gln
XM_011538173.1:c.1315G>C	XP_011536475.1:p.Glu439Gln
XM_011538174.1:c.1312G>C	XP_011536476.1:p.Glu438Gln
XM_011538175.1:c.1297G>C	XP_011536477.1:p.Glu433Gln
XM_011538176.1:c.1258G>C	XP_011536478.1:p.Glu420Gln
XM_011538177.1:c.1237G>C	XP_011536479.1:p.Glu413Gln
XM_011538178.1:c.1096G>C	XP_011536480.1:p.Glu366Gln
XM_011538179.1:c.1200+320G>C	XP_011536481.1:n.1200+320G>C
XM_011538180.1:c.982G>C	XP_011536482.1:p.Glu328Gln
XM_011538181.1:c.979G>C	XP_011536483.1:p.Glu327Gln
XM_011538182.1:c.904G>C	XP_011536484.1:p.Glu302Gln
XM_011538183.1:c.1201-201G>C	XP_011536485.1:n.1201-201G>C
XM_011538184.1:c.1220+300G>C	XP_011536486.1:n.1220+300G>C
XM_011538185.1:c.856-1232G>C	XP_011536487.1:n.856-1232G>C
XM_011538186.1:c.430G>C	XP_011536488.1:p.Glu144Gln
NM_001164690.2:c.1255G>C	NP_001158162.1:p.Glu419Gln
NM_001164691.2:c.1140+320G>C	NP_001158163.1:n.1140+320G>C
NM_020547.3:c.1255G>C MANE Select	NP_065434.1:p.Glu419Gln
XM_011538183.2:c.1201-201G>C	XP_011536485.1:n.1201-201G>C
XM_011538184.2:c.1220+300G>C	XP_011536486.1:n.1220+300G>C
XM_011538186.3:c.430G>C	XP_011536488.1:p.Glu144Gln
XM_017019179.2:c.1315G>C	XP_016874668.1:p.Glu439Gln
XM_024448938.1:c.1143+320G>C	XP_024304706.1:n.1143+320G>C
XR_002957309.1:n.1223G>C
XR_002957310.1:n.1109-201G>C
XR_002957311.1:n.1223G>C
XR_002957312.1:n.1108+320G>C