Canonical Allele Identifier: CA385095318

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823697C>T (hg19) ; chr12:g.53429913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429913C>T , CM000674.2:g.53429913C>T	GRCh38
NC_000012.11:g.53823697C>T , CM000674.1:g.53823697C>T	GRCh37
NC_000012.10:g.52109964C>T	NCBI36
NG_015981.1:g.11059C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1223C>T MANE Select	ENSP00000257863.3:p.Ala408Val
ENST00000257863.8:c.1223C>T	ENSP00000257863.3:p.Ala408Val
ENST00000379791.7:c.1140+288C>T	ENSP00000369117.3:n.1140+288C>T
ENST00000550311.5:c.1223C>T	ENSP00000446661.1:p.Ala408Val
ENST00000550839.1:c.314C>T	ENSP00000455338.1:p.Ala105Val
ENST00000552233.5:n.811C>T
NM_001164690.1:c.1223C>T	NP_001158162.1:p.Ala408Val
NM_001164691.1:c.1140+288C>T	NP_001158163.1:n.1140+288C>T
NM_020547.2:c.1223C>T	NP_065434.1:p.Ala408Val
XM_011538173.1:c.1283C>T	XP_011536475.1:p.Ala428Val
XM_011538174.1:c.1280C>T	XP_011536476.1:p.Ala427Val
XM_011538175.1:c.1265C>T	XP_011536477.1:p.Ala422Val
XM_011538176.1:c.1226C>T	XP_011536478.1:p.Ala409Val
XM_011538177.1:c.1205C>T	XP_011536479.1:p.Ala402Val
XM_011538178.1:c.1064C>T	XP_011536480.1:p.Ala355Val
XM_011538179.1:c.1200+288C>T	XP_011536481.1:n.1200+288C>T
XM_011538180.1:c.950C>T	XP_011536482.1:p.Ala317Val
XM_011538181.1:c.947C>T	XP_011536483.1:p.Ala316Val
XM_011538182.1:c.872C>T	XP_011536484.1:p.Ala291Val
XM_011538183.1:c.1201-233C>T	XP_011536485.1:n.1201-233C>T
XM_011538184.1:c.1220+268C>T	XP_011536486.1:n.1220+268C>T
XM_011538185.1:c.856-1264C>T	XP_011536487.1:n.856-1264C>T
XM_011538186.1:c.398C>T	XP_011536488.1:p.Ala133Val
NM_001164690.2:c.1223C>T	NP_001158162.1:p.Ala408Val
NM_001164691.2:c.1140+288C>T	NP_001158163.1:n.1140+288C>T
NM_020547.3:c.1223C>T MANE Select	NP_065434.1:p.Ala408Val
XM_011538183.2:c.1201-233C>T	XP_011536485.1:n.1201-233C>T
XM_011538184.2:c.1220+268C>T	XP_011536486.1:n.1220+268C>T
XM_011538186.3:c.398C>T	XP_011536488.1:p.Ala133Val
XM_017019179.2:c.1283C>T	XP_016874668.1:p.Ala428Val
XM_024448938.1:c.1143+288C>T	XP_024304706.1:n.1143+288C>T
XR_002957309.1:n.1191C>T
XR_002957310.1:n.1109-233C>T
XR_002957311.1:n.1191C>T
XR_002957312.1:n.1108+288C>T