Canonical Allele Identifier: CA480086904
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823695A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429911A>G , CM000674.2:g.53429911A>G GRCh38
NC_000012.11:g.53823695A>G , CM000674.1:g.53823695A>G GRCh37
NC_000012.10:g.52109962A>G NCBI36
NG_015981.1:g.11057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1221A>G MANE Select ENSP00000257863.3:p.Arg407=
ENST00000257863.8:c.1221A>G ENSP00000257863.3:p.Arg407=
ENST00000379791.7:c.1140+286A>G ENSP00000369117.3:n.1140+286A>G
ENST00000550311.5:c.1221A>G ENSP00000446661.1:p.Arg407=
ENST00000550839.1:c.312A>G ENSP00000455338.1:p.Arg104=
ENST00000552233.5:n.809A>G
NM_001164690.1:c.1221A>G NP_001158162.1:p.Arg407=
NM_001164691.1:c.1140+286A>G NP_001158163.1:n.1140+286A>G
NM_020547.2:c.1221A>G NP_065434.1:p.Arg407=
XM_011538173.1:c.1281A>G XP_011536475.1:p.Arg427=
XM_011538174.1:c.1278A>G XP_011536476.1:p.Arg426=
XM_011538175.1:c.1263A>G XP_011536477.1:p.Arg421=
XM_011538176.1:c.1224A>G XP_011536478.1:p.Arg408=
XM_011538177.1:c.1203A>G XP_011536479.1:p.Arg401=
XM_011538178.1:c.1062A>G XP_011536480.1:p.Arg354=
XM_011538179.1:c.1200+286A>G XP_011536481.1:n.1200+286A>G
XM_011538180.1:c.948A>G XP_011536482.1:p.Arg316=
XM_011538181.1:c.945A>G XP_011536483.1:p.Arg315=
XM_011538182.1:c.870A>G XP_011536484.1:p.Arg290=
XM_011538183.1:c.1201-235A>G XP_011536485.1:n.1201-235A>G
XM_011538184.1:c.1220+266A>G XP_011536486.1:n.1220+266A>G
XM_011538185.1:c.856-1266A>G XP_011536487.1:n.856-1266A>G
XM_011538186.1:c.396A>G XP_011536488.1:p.Arg132=
NM_001164690.2:c.1221A>G NP_001158162.1:p.Arg407=
NM_001164691.2:c.1140+286A>G NP_001158163.1:n.1140+286A>G
NM_020547.3:c.1221A>G MANE Select NP_065434.1:p.Arg407=
XM_011538183.2:c.1201-235A>G XP_011536485.1:n.1201-235A>G
XM_011538184.2:c.1220+266A>G XP_011536486.1:n.1220+266A>G
XM_011538186.3:c.396A>G XP_011536488.1:p.Arg132=
XM_017019179.2:c.1281A>G XP_016874668.1:p.Arg427=
XM_024448938.1:c.1143+286A>G XP_024304706.1:n.1143+286A>G
XR_002957309.1:n.1189A>G
XR_002957310.1:n.1109-235A>G
XR_002957311.1:n.1189A>G
XR_002957312.1:n.1108+286A>G