Canonical Allele Identifier: CA480086854
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823668A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429884A>T , CM000674.2:g.53429884A>T GRCh38
NC_000012.11:g.53823668A>T , CM000674.1:g.53823668A>T GRCh37
NC_000012.10:g.52109935A>T NCBI36
NG_015981.1:g.11030A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1194A>T MANE Select ENSP00000257863.3:p.Leu398=
ENST00000257863.8:c.1194A>T ENSP00000257863.3:p.Leu398=
ENST00000379791.7:c.1140+259A>T ENSP00000369117.3:n.1140+259A>T
ENST00000550311.5:c.1194A>T ENSP00000446661.1:p.Leu398=
ENST00000550839.1:c.285A>T ENSP00000455338.1:p.Leu95=
ENST00000552233.5:n.782A>T
NM_001164690.1:c.1194A>T NP_001158162.1:p.Leu398=
NM_001164691.1:c.1140+259A>T NP_001158163.1:n.1140+259A>T
NM_020547.2:c.1194A>T NP_065434.1:p.Leu398=
XM_011538173.1:c.1254A>T XP_011536475.1:p.Leu418=
XM_011538174.1:c.1251A>T XP_011536476.1:p.Leu417=
XM_011538175.1:c.1236A>T XP_011536477.1:p.Leu412=
XM_011538176.1:c.1197A>T XP_011536478.1:p.Leu399=
XM_011538177.1:c.1176A>T XP_011536479.1:p.Leu392=
XM_011538178.1:c.1035A>T XP_011536480.1:p.Leu345=
XM_011538179.1:c.1200+259A>T XP_011536481.1:n.1200+259A>T
XM_011538180.1:c.921A>T XP_011536482.1:p.Leu307=
XM_011538181.1:c.918A>T XP_011536483.1:p.Leu306=
XM_011538182.1:c.843A>T XP_011536484.1:p.Leu281=
XM_011538183.1:c.1200+259A>T XP_011536485.1:n.1200+259A>T
XM_011538184.1:c.1220+239A>T XP_011536486.1:n.1220+239A>T
XM_011538185.1:c.856-1293A>T XP_011536487.1:n.856-1293A>T
XM_011538186.1:c.369A>T XP_011536488.1:p.Leu123=
NM_001164690.2:c.1194A>T NP_001158162.1:p.Leu398=
NM_001164691.2:c.1140+259A>T NP_001158163.1:n.1140+259A>T
NM_020547.3:c.1194A>T MANE Select NP_065434.1:p.Leu398=
XM_011538183.2:c.1200+259A>T XP_011536485.1:n.1200+259A>T
XM_011538184.2:c.1220+239A>T XP_011536486.1:n.1220+239A>T
XM_011538186.3:c.369A>T XP_011536488.1:p.Leu123=
XM_017019179.2:c.1254A>T XP_016874668.1:p.Leu418=
XM_024448938.1:c.1143+259A>T XP_024304706.1:n.1143+259A>T
XR_002957309.1:n.1162A>T
XR_002957310.1:n.1108+259A>T
XR_002957311.1:n.1162A>T
XR_002957312.1:n.1108+259A>T