Canonical Allele Identifier: CA385095022

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823626G>T (hg19) ; chr12:g.53429842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429842G>T , CM000674.2:g.53429842G>T	GRCh38
NC_000012.11:g.53823626G>T , CM000674.1:g.53823626G>T	GRCh37
NC_000012.10:g.52109893G>T	NCBI36
NG_015981.1:g.10988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1152G>T MANE Select	ENSP00000257863.3:p.Gln384His
ENST00000257863.8:c.1152G>T	ENSP00000257863.3:p.Gln384His
ENST00000379791.7:c.1140+217G>T	ENSP00000369117.3:n.1140+217G>T
ENST00000550311.5:c.1152G>T	ENSP00000446661.1:p.Gln384His
ENST00000550839.1:c.243G>T	ENSP00000455338.1:p.Gln81His
ENST00000552233.5:n.740G>T
NM_001164690.1:c.1152G>T	NP_001158162.1:p.Gln384His
NM_001164691.1:c.1140+217G>T	NP_001158163.1:n.1140+217G>T
NM_020547.2:c.1152G>T	NP_065434.1:p.Gln384His
XM_011538173.1:c.1212G>T	XP_011536475.1:p.Gln404His
XM_011538174.1:c.1209G>T	XP_011536476.1:p.Gln403His
XM_011538175.1:c.1194G>T	XP_011536477.1:p.Gln398His
XM_011538176.1:c.1155G>T	XP_011536478.1:p.Gln385His
XM_011538177.1:c.1134G>T	XP_011536479.1:p.Gln378His
XM_011538178.1:c.993G>T	XP_011536480.1:p.Gln331His
XM_011538179.1:c.1200+217G>T	XP_011536481.1:n.1200+217G>T
XM_011538180.1:c.879G>T	XP_011536482.1:p.Gln293His
XM_011538181.1:c.876G>T	XP_011536483.1:p.Gln292His
XM_011538182.1:c.801G>T	XP_011536484.1:p.Gln267His
XM_011538183.1:c.1200+217G>T	XP_011536485.1:n.1200+217G>T
XM_011538184.1:c.1220+197G>T	XP_011536486.1:n.1220+197G>T
XM_011538185.1:c.856-1335G>T	XP_011536487.1:n.856-1335G>T
XM_011538186.1:c.327G>T	XP_011536488.1:p.Gln109His
NM_001164690.2:c.1152G>T	NP_001158162.1:p.Gln384His
NM_001164691.2:c.1140+217G>T	NP_001158163.1:n.1140+217G>T
NM_020547.3:c.1152G>T MANE Select	NP_065434.1:p.Gln384His
XM_011538183.2:c.1200+217G>T	XP_011536485.1:n.1200+217G>T
XM_011538184.2:c.1220+197G>T	XP_011536486.1:n.1220+197G>T
XM_011538186.3:c.327G>T	XP_011536488.1:p.Gln109His
XM_017019179.2:c.1212G>T	XP_016874668.1:p.Gln404His
XM_024448938.1:c.1143+217G>T	XP_024304706.1:n.1143+217G>T
XR_002957309.1:n.1120G>T
XR_002957310.1:n.1108+217G>T
XR_002957311.1:n.1120G>T
XR_002957312.1:n.1108+217G>T