Canonical Allele Identifier: CA385095435
Gene: AMHR2 HGNC NCBI

Linked Data

dbSNP Id: rs1401196084

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429942T>C , CM000674.2:g.53429942T>C GRCh38
NC_000012.11:g.53823726T>C , CM000674.1:g.53823726T>C GRCh37
NC_000012.10:g.52109993T>C NCBI36
NG_015981.1:g.11088T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1252T>C MANE Select ENSP00000257863.3:p.Trp418Arg
ENST00000257863.8:c.1252T>C ENSP00000257863.3:p.Trp418Arg
ENST00000379791.7:c.1140+317T>C ENSP00000369117.3:n.1140+317T>C
ENST00000550311.5:c.1252T>C ENSP00000446661.1:p.Trp418Arg
ENST00000550839.1:c.343T>C ENSP00000455338.1:p.Trp115Arg
ENST00000552233.5:n.840T>C
NM_001164690.1:c.1252T>C NP_001158162.1:p.Trp418Arg
NM_001164691.1:c.1140+317T>C NP_001158163.1:n.1140+317T>C
NM_020547.2:c.1252T>C NP_065434.1:p.Trp418Arg
XM_011538173.1:c.1312T>C XP_011536475.1:p.Trp438Arg
XM_011538174.1:c.1309T>C XP_011536476.1:p.Trp437Arg
XM_011538175.1:c.1294T>C XP_011536477.1:p.Trp432Arg
XM_011538176.1:c.1255T>C XP_011536478.1:p.Trp419Arg
XM_011538177.1:c.1234T>C XP_011536479.1:p.Trp412Arg
XM_011538178.1:c.1093T>C XP_011536480.1:p.Trp365Arg
XM_011538179.1:c.1200+317T>C XP_011536481.1:n.1200+317T>C
XM_011538180.1:c.979T>C XP_011536482.1:p.Trp327Arg
XM_011538181.1:c.976T>C XP_011536483.1:p.Trp326Arg
XM_011538182.1:c.901T>C XP_011536484.1:p.Trp301Arg
XM_011538183.1:c.1201-204T>C XP_011536485.1:n.1201-204T>C
XM_011538184.1:c.1220+297T>C XP_011536486.1:n.1220+297T>C
XM_011538185.1:c.856-1235T>C XP_011536487.1:n.856-1235T>C
XM_011538186.1:c.427T>C XP_011536488.1:p.Trp143Arg
NM_001164690.2:c.1252T>C NP_001158162.1:p.Trp418Arg
NM_001164691.2:c.1140+317T>C NP_001158163.1:n.1140+317T>C
NM_020547.3:c.1252T>C MANE Select NP_065434.1:p.Trp418Arg
XM_011538183.2:c.1201-204T>C XP_011536485.1:n.1201-204T>C
XM_011538184.2:c.1220+297T>C XP_011536486.1:n.1220+297T>C
XM_011538186.3:c.427T>C XP_011536488.1:p.Trp143Arg
XM_017019179.2:c.1312T>C XP_016874668.1:p.Trp438Arg
XM_024448938.1:c.1143+317T>C XP_024304706.1:n.1143+317T>C
XR_002957309.1:n.1220T>C
XR_002957310.1:n.1109-204T>C
XR_002957311.1:n.1220T>C
XR_002957312.1:n.1108+317T>C