Canonical Allele Identifier: CA385095555

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823751A>T (hg19) ; chr12:g.53429967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429967A>T , CM000674.2:g.53429967A>T	GRCh38
NC_000012.11:g.53823751A>T , CM000674.1:g.53823751A>T	GRCh37
NC_000012.10:g.52110018A>T	NCBI36
NG_015981.1:g.11113A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1277A>T MANE Select	ENSP00000257863.3:p.Asp426Val
ENST00000257863.8:c.1277A>T	ENSP00000257863.3:p.Asp426Val
ENST00000379791.7:c.1140+342A>T	ENSP00000369117.3:n.1140+342A>T
ENST00000550311.5:c.1277A>T	ENSP00000446661.1:p.Asp426Val
ENST00000550839.1:c.368A>T	ENSP00000455338.1:p.Asp123Val
ENST00000552233.5:n.865A>T
NM_001164690.1:c.1277A>T	NP_001158162.1:p.Asp426Val
NM_001164691.1:c.1140+342A>T	NP_001158163.1:n.1140+342A>T
NM_020547.2:c.1277A>T	NP_065434.1:p.Asp426Val
XM_011538173.1:c.1337A>T	XP_011536475.1:p.Asp446Val
XM_011538174.1:c.1334A>T	XP_011536476.1:p.Asp445Val
XM_011538175.1:c.1319A>T	XP_011536477.1:p.Asp440Val
XM_011538176.1:c.1280A>T	XP_011536478.1:p.Asp427Val
XM_011538177.1:c.1259A>T	XP_011536479.1:p.Asp420Val
XM_011538178.1:c.1118A>T	XP_011536480.1:p.Asp373Val
XM_011538179.1:c.1200+342A>T	XP_011536481.1:n.1200+342A>T
XM_011538180.1:c.1004A>T	XP_011536482.1:p.Asp335Val
XM_011538181.1:c.1001A>T	XP_011536483.1:p.Asp334Val
XM_011538182.1:c.926A>T	XP_011536484.1:p.Asp309Val
XM_011538183.1:c.1201-179A>T	XP_011536485.1:n.1201-179A>T
XM_011538184.1:c.1220+322A>T	XP_011536486.1:n.1220+322A>T
XM_011538185.1:c.856-1210A>T	XP_011536487.1:n.856-1210A>T
XM_011538186.1:c.452A>T	XP_011536488.1:p.Asp151Val
NM_001164690.2:c.1277A>T	NP_001158162.1:p.Asp426Val
NM_001164691.2:c.1140+342A>T	NP_001158163.1:n.1140+342A>T
NM_020547.3:c.1277A>T MANE Select	NP_065434.1:p.Asp426Val
XM_011538183.2:c.1201-179A>T	XP_011536485.1:n.1201-179A>T
XM_011538184.2:c.1220+322A>T	XP_011536486.1:n.1220+322A>T
XM_011538186.3:c.452A>T	XP_011536488.1:p.Asp151Val
XM_017019179.2:c.1337A>T	XP_016874668.1:p.Asp446Val
XM_024448938.1:c.1143+342A>T	XP_024304706.1:n.1143+342A>T
XR_002957309.1:n.1245A>T
XR_002957310.1:n.1109-179A>T
XR_002957311.1:n.1245A>T
XR_002957312.1:n.1108+342A>T