Canonical Allele Identifier: CA480086996
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823749A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429965A>G , CM000674.2:g.53429965A>G GRCh38
NC_000012.11:g.53823749A>G , CM000674.1:g.53823749A>G GRCh37
NC_000012.10:g.52110016A>G NCBI36
NG_015981.1:g.11111A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1275A>G MANE Select ENSP00000257863.3:p.Pro425=
ENST00000257863.8:c.1275A>G ENSP00000257863.3:p.Pro425=
ENST00000379791.7:c.1140+340A>G ENSP00000369117.3:n.1140+340A>G
ENST00000550311.5:c.1275A>G ENSP00000446661.1:p.Pro425=
ENST00000550839.1:c.366A>G ENSP00000455338.1:p.Pro122=
ENST00000552233.5:n.863A>G
NM_001164690.1:c.1275A>G NP_001158162.1:p.Pro425=
NM_001164691.1:c.1140+340A>G NP_001158163.1:n.1140+340A>G
NM_020547.2:c.1275A>G NP_065434.1:p.Pro425=
XM_011538173.1:c.1335A>G XP_011536475.1:p.Pro445=
XM_011538174.1:c.1332A>G XP_011536476.1:p.Pro444=
XM_011538175.1:c.1317A>G XP_011536477.1:p.Pro439=
XM_011538176.1:c.1278A>G XP_011536478.1:p.Pro426=
XM_011538177.1:c.1257A>G XP_011536479.1:p.Pro419=
XM_011538178.1:c.1116A>G XP_011536480.1:p.Pro372=
XM_011538179.1:c.1200+340A>G XP_011536481.1:n.1200+340A>G
XM_011538180.1:c.1002A>G XP_011536482.1:p.Pro334=
XM_011538181.1:c.999A>G XP_011536483.1:p.Pro333=
XM_011538182.1:c.924A>G XP_011536484.1:p.Pro308=
XM_011538183.1:c.1201-181A>G XP_011536485.1:n.1201-181A>G
XM_011538184.1:c.1220+320A>G XP_011536486.1:n.1220+320A>G
XM_011538185.1:c.856-1212A>G XP_011536487.1:n.856-1212A>G
XM_011538186.1:c.450A>G XP_011536488.1:p.Pro150=
NM_001164690.2:c.1275A>G NP_001158162.1:p.Pro425=
NM_001164691.2:c.1140+340A>G NP_001158163.1:n.1140+340A>G
NM_020547.3:c.1275A>G MANE Select NP_065434.1:p.Pro425=
XM_011538183.2:c.1201-181A>G XP_011536485.1:n.1201-181A>G
XM_011538184.2:c.1220+320A>G XP_011536486.1:n.1220+320A>G
XM_011538186.3:c.450A>G XP_011536488.1:p.Pro150=
XM_017019179.2:c.1335A>G XP_016874668.1:p.Pro445=
XM_024448938.1:c.1143+340A>G XP_024304706.1:n.1143+340A>G
XR_002957309.1:n.1243A>G
XR_002957310.1:n.1109-181A>G
XR_002957311.1:n.1243A>G
XR_002957312.1:n.1108+340A>G