Canonical Allele Identifier: CA119789
Gene: AMHR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8629
dbSNP Id: rs137853104

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429907G>A , CM000674.2:g.53429907G>A GRCh38
NC_000012.11:g.53823691G>A , CM000674.1:g.53823691G>A GRCh37
NC_000012.10:g.52109958G>A NCBI36
NG_015981.1:g.11053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1217G>A MANE Select ENSP00000257863.3:p.Arg406Gln
ENST00000257863.8:c.1217G>A ENSP00000257863.3:p.Arg406Gln
ENST00000379791.7:c.1140+282G>A ENSP00000369117.3:n.1140+282G>A
ENST00000550311.5:c.1217G>A ENSP00000446661.1:p.Arg406Gln
ENST00000550839.1:c.308G>A ENSP00000455338.1:p.Arg103Gln
ENST00000552233.5:n.805G>A
NM_001164690.1:c.1217G>A NP_001158162.1:p.Arg406Gln
NM_001164691.1:c.1140+282G>A NP_001158163.1:n.1140+282G>A
NM_020547.2:c.1217G>A NP_065434.1:p.Arg406Gln
XM_011538173.1:c.1277G>A XP_011536475.1:p.Arg426Gln
XM_011538174.1:c.1274G>A XP_011536476.1:p.Arg425Gln
XM_011538175.1:c.1259G>A XP_011536477.1:p.Arg420Gln
XM_011538176.1:c.1220G>A XP_011536478.1:p.Arg407Gln
XM_011538177.1:c.1199G>A XP_011536479.1:p.Arg400Gln
XM_011538178.1:c.1058G>A XP_011536480.1:p.Arg353Gln
XM_011538179.1:c.1200+282G>A XP_011536481.1:n.1200+282G>A
XM_011538180.1:c.944G>A XP_011536482.1:p.Arg315Gln
XM_011538181.1:c.941G>A XP_011536483.1:p.Arg314Gln
XM_011538182.1:c.866G>A XP_011536484.1:p.Arg289Gln
XM_011538183.1:c.1201-239G>A XP_011536485.1:n.1201-239G>A
XM_011538184.1:c.1220+262G>A XP_011536486.1:n.1220+262G>A
XM_011538185.1:c.856-1270G>A XP_011536487.1:n.856-1270G>A
XM_011538186.1:c.392G>A XP_011536488.1:p.Arg131Gln
NM_001164690.2:c.1217G>A NP_001158162.1:p.Arg406Gln
NM_001164691.2:c.1140+282G>A NP_001158163.1:n.1140+282G>A
NM_020547.3:c.1217G>A MANE Select NP_065434.1:p.Arg406Gln
XM_011538183.2:c.1201-239G>A XP_011536485.1:n.1201-239G>A
XM_011538184.2:c.1220+262G>A XP_011536486.1:n.1220+262G>A
XM_011538186.3:c.392G>A XP_011536488.1:p.Arg131Gln
XM_017019179.2:c.1277G>A XP_016874668.1:p.Arg426Gln
XM_024448938.1:c.1143+282G>A XP_024304706.1:n.1143+282G>A
XR_002957309.1:n.1185G>A
XR_002957310.1:n.1109-239G>A
XR_002957311.1:n.1185G>A
XR_002957312.1:n.1108+282G>A