Canonical Allele Identifier: CA480087005
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823756A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429972A>C , CM000674.2:g.53429972A>C GRCh38
NC_000012.11:g.53823756A>C , CM000674.1:g.53823756A>C GRCh37
NC_000012.10:g.52110023A>C NCBI36
NG_015981.1:g.11118A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1282A>C MANE Select ENSP00000257863.3:p.Arg428=
ENST00000257863.8:c.1282A>C ENSP00000257863.3:p.Arg428=
ENST00000379791.7:c.1140+347A>C ENSP00000369117.3:n.1140+347A>C
ENST00000550311.5:c.1282A>C ENSP00000446661.1:p.Arg428=
ENST00000550839.1:c.373A>C ENSP00000455338.1:p.Arg125=
ENST00000552233.5:n.870A>C
NM_001164690.1:c.1282A>C NP_001158162.1:p.Arg428=
NM_001164691.1:c.1140+347A>C NP_001158163.1:n.1140+347A>C
NM_020547.2:c.1282A>C NP_065434.1:p.Arg428=
XM_011538173.1:c.1342A>C XP_011536475.1:p.Arg448=
XM_011538174.1:c.1339A>C XP_011536476.1:p.Arg447=
XM_011538175.1:c.1324A>C XP_011536477.1:p.Arg442=
XM_011538176.1:c.1285A>C XP_011536478.1:p.Arg429=
XM_011538177.1:c.1264A>C XP_011536479.1:p.Arg422=
XM_011538178.1:c.1123A>C XP_011536480.1:p.Arg375=
XM_011538179.1:c.1200+347A>C XP_011536481.1:n.1200+347A>C
XM_011538180.1:c.1009A>C XP_011536482.1:p.Arg337=
XM_011538181.1:c.1006A>C XP_011536483.1:p.Arg336=
XM_011538182.1:c.931A>C XP_011536484.1:p.Arg311=
XM_011538183.1:c.1201-174A>C XP_011536485.1:n.1201-174A>C
XM_011538184.1:c.1220+327A>C XP_011536486.1:n.1220+327A>C
XM_011538185.1:c.856-1205A>C XP_011536487.1:n.856-1205A>C
XM_011538186.1:c.457A>C XP_011536488.1:p.Arg153=
NM_001164690.2:c.1282A>C NP_001158162.1:p.Arg428=
NM_001164691.2:c.1140+347A>C NP_001158163.1:n.1140+347A>C
NM_020547.3:c.1282A>C MANE Select NP_065434.1:p.Arg428=
XM_011538183.2:c.1201-174A>C XP_011536485.1:n.1201-174A>C
XM_011538184.2:c.1220+327A>C XP_011536486.1:n.1220+327A>C
XM_011538186.3:c.457A>C XP_011536488.1:p.Arg153=
XM_017019179.2:c.1342A>C XP_016874668.1:p.Arg448=
XM_024448938.1:c.1143+347A>C XP_024304706.1:n.1143+347A>C
XR_002957309.1:n.1250A>C
XR_002957310.1:n.1109-174A>C
XR_002957311.1:n.1250A>C
XR_002957312.1:n.1108+347A>C