Canonical Allele Identifier: CA480086892
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823689C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429905C>A , CM000674.2:g.53429905C>A GRCh38
NC_000012.11:g.53823689C>A , CM000674.1:g.53823689C>A GRCh37
NC_000012.10:g.52109956C>A NCBI36
NG_015981.1:g.11051C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1215C>A MANE Select ENSP00000257863.3:p.Leu405=
ENST00000257863.8:c.1215C>A ENSP00000257863.3:p.Leu405=
ENST00000379791.7:c.1140+280C>A ENSP00000369117.3:n.1140+280C>A
ENST00000550311.5:c.1215C>A ENSP00000446661.1:p.Leu405=
ENST00000550839.1:c.306C>A ENSP00000455338.1:p.Leu102=
ENST00000552233.5:n.803C>A
NM_001164690.1:c.1215C>A NP_001158162.1:p.Leu405=
NM_001164691.1:c.1140+280C>A NP_001158163.1:n.1140+280C>A
NM_020547.2:c.1215C>A NP_065434.1:p.Leu405=
XM_011538173.1:c.1275C>A XP_011536475.1:p.Leu425=
XM_011538174.1:c.1272C>A XP_011536476.1:p.Leu424=
XM_011538175.1:c.1257C>A XP_011536477.1:p.Leu419=
XM_011538176.1:c.1218C>A XP_011536478.1:p.Leu406=
XM_011538177.1:c.1197C>A XP_011536479.1:p.Leu399=
XM_011538178.1:c.1056C>A XP_011536480.1:p.Leu352=
XM_011538179.1:c.1200+280C>A XP_011536481.1:n.1200+280C>A
XM_011538180.1:c.942C>A XP_011536482.1:p.Leu314=
XM_011538181.1:c.939C>A XP_011536483.1:p.Leu313=
XM_011538182.1:c.864C>A XP_011536484.1:p.Leu288=
XM_011538183.1:c.1201-241C>A XP_011536485.1:n.1201-241C>A
XM_011538184.1:c.1220+260C>A XP_011536486.1:n.1220+260C>A
XM_011538185.1:c.856-1272C>A XP_011536487.1:n.856-1272C>A
XM_011538186.1:c.390C>A XP_011536488.1:p.Leu130=
NM_001164690.2:c.1215C>A NP_001158162.1:p.Leu405=
NM_001164691.2:c.1140+280C>A NP_001158163.1:n.1140+280C>A
NM_020547.3:c.1215C>A MANE Select NP_065434.1:p.Leu405=
XM_011538183.2:c.1201-241C>A XP_011536485.1:n.1201-241C>A
XM_011538184.2:c.1220+260C>A XP_011536486.1:n.1220+260C>A
XM_011538186.3:c.390C>A XP_011536488.1:p.Leu130=
XM_017019179.2:c.1275C>A XP_016874668.1:p.Leu425=
XM_024448938.1:c.1143+280C>A XP_024304706.1:n.1143+280C>A
XR_002957309.1:n.1183C>A
XR_002957310.1:n.1109-241C>A
XR_002957311.1:n.1183C>A
XR_002957312.1:n.1108+280C>A