Canonical Allele Identifier: CA480086974
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823731G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429947G>A , CM000674.2:g.53429947G>A GRCh38
NC_000012.11:g.53823731G>A , CM000674.1:g.53823731G>A GRCh37
NC_000012.10:g.52109998G>A NCBI36
NG_015981.1:g.11093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1257G>A MANE Select ENSP00000257863.3:p.Glu419=
ENST00000257863.8:c.1257G>A ENSP00000257863.3:p.Glu419=
ENST00000379791.7:c.1140+322G>A ENSP00000369117.3:n.1140+322G>A
ENST00000550311.5:c.1257G>A ENSP00000446661.1:p.Glu419=
ENST00000550839.1:c.348G>A ENSP00000455338.1:p.Glu116=
ENST00000552233.5:n.845G>A
NM_001164690.1:c.1257G>A NP_001158162.1:p.Glu419=
NM_001164691.1:c.1140+322G>A NP_001158163.1:n.1140+322G>A
NM_020547.2:c.1257G>A NP_065434.1:p.Glu419=
XM_011538173.1:c.1317G>A XP_011536475.1:p.Glu439=
XM_011538174.1:c.1314G>A XP_011536476.1:p.Glu438=
XM_011538175.1:c.1299G>A XP_011536477.1:p.Glu433=
XM_011538176.1:c.1260G>A XP_011536478.1:p.Glu420=
XM_011538177.1:c.1239G>A XP_011536479.1:p.Glu413=
XM_011538178.1:c.1098G>A XP_011536480.1:p.Glu366=
XM_011538179.1:c.1200+322G>A XP_011536481.1:n.1200+322G>A
XM_011538180.1:c.984G>A XP_011536482.1:p.Glu328=
XM_011538181.1:c.981G>A XP_011536483.1:p.Glu327=
XM_011538182.1:c.906G>A XP_011536484.1:p.Glu302=
XM_011538183.1:c.1201-199G>A XP_011536485.1:n.1201-199G>A
XM_011538184.1:c.1220+302G>A XP_011536486.1:n.1220+302G>A
XM_011538185.1:c.856-1230G>A XP_011536487.1:n.856-1230G>A
XM_011538186.1:c.432G>A XP_011536488.1:p.Glu144=
NM_001164690.2:c.1257G>A NP_001158162.1:p.Glu419=
NM_001164691.2:c.1140+322G>A NP_001158163.1:n.1140+322G>A
NM_020547.3:c.1257G>A MANE Select NP_065434.1:p.Glu419=
XM_011538183.2:c.1201-199G>A XP_011536485.1:n.1201-199G>A
XM_011538184.2:c.1220+302G>A XP_011536486.1:n.1220+302G>A
XM_011538186.3:c.432G>A XP_011536488.1:p.Glu144=
XM_017019179.2:c.1317G>A XP_016874668.1:p.Glu439=
XM_024448938.1:c.1143+322G>A XP_024304706.1:n.1143+322G>A
XR_002957309.1:n.1225G>A
XR_002957310.1:n.1109-199G>A
XR_002957311.1:n.1225G>A
XR_002957312.1:n.1108+322G>A