Canonical Allele Identifier: CA480086992
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823743C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429959C>T , CM000674.2:g.53429959C>T GRCh38
NC_000012.11:g.53823743C>T , CM000674.1:g.53823743C>T GRCh37
NC_000012.10:g.52110010C>T NCBI36
NG_015981.1:g.11105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1269C>T MANE Select ENSP00000257863.3:p.Arg423=
ENST00000257863.8:c.1269C>T ENSP00000257863.3:p.Arg423=
ENST00000379791.7:c.1140+334C>T ENSP00000369117.3:n.1140+334C>T
ENST00000550311.5:c.1269C>T ENSP00000446661.1:p.Arg423=
ENST00000550839.1:c.360C>T ENSP00000455338.1:p.Arg120=
ENST00000552233.5:n.857C>T
NM_001164690.1:c.1269C>T NP_001158162.1:p.Arg423=
NM_001164691.1:c.1140+334C>T NP_001158163.1:n.1140+334C>T
NM_020547.2:c.1269C>T NP_065434.1:p.Arg423=
XM_011538173.1:c.1329C>T XP_011536475.1:p.Arg443=
XM_011538174.1:c.1326C>T XP_011536476.1:p.Arg442=
XM_011538175.1:c.1311C>T XP_011536477.1:p.Arg437=
XM_011538176.1:c.1272C>T XP_011536478.1:p.Arg424=
XM_011538177.1:c.1251C>T XP_011536479.1:p.Arg417=
XM_011538178.1:c.1110C>T XP_011536480.1:p.Arg370=
XM_011538179.1:c.1200+334C>T XP_011536481.1:n.1200+334C>T
XM_011538180.1:c.996C>T XP_011536482.1:p.Arg332=
XM_011538181.1:c.993C>T XP_011536483.1:p.Arg331=
XM_011538182.1:c.918C>T XP_011536484.1:p.Arg306=
XM_011538183.1:c.1201-187C>T XP_011536485.1:n.1201-187C>T
XM_011538184.1:c.1220+314C>T XP_011536486.1:n.1220+314C>T
XM_011538185.1:c.856-1218C>T XP_011536487.1:n.856-1218C>T
XM_011538186.1:c.444C>T XP_011536488.1:p.Arg148=
NM_001164690.2:c.1269C>T NP_001158162.1:p.Arg423=
NM_001164691.2:c.1140+334C>T NP_001158163.1:n.1140+334C>T
NM_020547.3:c.1269C>T MANE Select NP_065434.1:p.Arg423=
XM_011538183.2:c.1201-187C>T XP_011536485.1:n.1201-187C>T
XM_011538184.2:c.1220+314C>T XP_011536486.1:n.1220+314C>T
XM_011538186.3:c.444C>T XP_011536488.1:p.Arg148=
XM_017019179.2:c.1329C>T XP_016874668.1:p.Arg443=
XM_024448938.1:c.1143+334C>T XP_024304706.1:n.1143+334C>T
XR_002957309.1:n.1237C>T
XR_002957310.1:n.1109-187C>T
XR_002957311.1:n.1237C>T
XR_002957312.1:n.1108+334C>T