Canonical Allele Identifier: CA480086802
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823647C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429863C>T , CM000674.2:g.53429863C>T GRCh38
NC_000012.11:g.53823647C>T , CM000674.1:g.53823647C>T GRCh37
NC_000012.10:g.52109914C>T NCBI36
NG_015981.1:g.11009C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1173C>T MANE Select ENSP00000257863.3:p.Leu391=
ENST00000257863.8:c.1173C>T ENSP00000257863.3:p.Leu391=
ENST00000379791.7:c.1140+238C>T ENSP00000369117.3:n.1140+238C>T
ENST00000550311.5:c.1173C>T ENSP00000446661.1:p.Leu391=
ENST00000550839.1:c.264C>T ENSP00000455338.1:p.Leu88=
ENST00000552233.5:n.761C>T
NM_001164690.1:c.1173C>T NP_001158162.1:p.Leu391=
NM_001164691.1:c.1140+238C>T NP_001158163.1:n.1140+238C>T
NM_020547.2:c.1173C>T NP_065434.1:p.Leu391=
XM_011538173.1:c.1233C>T XP_011536475.1:p.Leu411=
XM_011538174.1:c.1230C>T XP_011536476.1:p.Leu410=
XM_011538175.1:c.1215C>T XP_011536477.1:p.Leu405=
XM_011538176.1:c.1176C>T XP_011536478.1:p.Leu392=
XM_011538177.1:c.1155C>T XP_011536479.1:p.Leu385=
XM_011538178.1:c.1014C>T XP_011536480.1:p.Leu338=
XM_011538179.1:c.1200+238C>T XP_011536481.1:n.1200+238C>T
XM_011538180.1:c.900C>T XP_011536482.1:p.Leu300=
XM_011538181.1:c.897C>T XP_011536483.1:p.Leu299=
XM_011538182.1:c.822C>T XP_011536484.1:p.Leu274=
XM_011538183.1:c.1200+238C>T XP_011536485.1:n.1200+238C>T
XM_011538184.1:c.1220+218C>T XP_011536486.1:n.1220+218C>T
XM_011538185.1:c.856-1314C>T XP_011536487.1:n.856-1314C>T
XM_011538186.1:c.348C>T XP_011536488.1:p.Leu116=
NM_001164690.2:c.1173C>T NP_001158162.1:p.Leu391=
NM_001164691.2:c.1140+238C>T NP_001158163.1:n.1140+238C>T
NM_020547.3:c.1173C>T MANE Select NP_065434.1:p.Leu391=
XM_011538183.2:c.1200+238C>T XP_011536485.1:n.1200+238C>T
XM_011538184.2:c.1220+218C>T XP_011536486.1:n.1220+218C>T
XM_011538186.3:c.348C>T XP_011536488.1:p.Leu116=
XM_017019179.2:c.1233C>T XP_016874668.1:p.Leu411=
XM_024448938.1:c.1143+238C>T XP_024304706.1:n.1143+238C>T
XR_002957309.1:n.1141C>T
XR_002957310.1:n.1108+238C>T
XR_002957311.1:n.1141C>T
XR_002957312.1:n.1108+238C>T