Canonical Allele Identifier: CA2036978833
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429936C= , CM000674.2:g.53429936C= GRCh38
NC_000012.11:g.53823720C= , CM000674.1:g.53823720C= GRCh37
NC_000012.10:g.52109987C= NCBI36
NG_015981.1:g.11082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1246C= MANE Select ENSP00000257863.3:p.Leu416=
ENST00000257863.8:c.1246C= ENSP00000257863.3:p.Leu416=
ENST00000379791.7:c.1140+311C= ENSP00000369117.3:n.1140+311C=
ENST00000550311.5:c.1246C= ENSP00000446661.1:p.Leu416=
ENST00000550839.1:c.337C= ENSP00000455338.1:p.Leu113=
ENST00000552233.5:n.834C=
NM_001164690.1:c.1246C= NP_001158162.1:p.Leu416=
NM_001164691.1:c.1140+311C= NP_001158163.1:n.1140+311C=
NM_020547.2:c.1246C= NP_065434.1:p.Leu416=
XM_011538173.1:c.1306C= XP_011536475.1:p.Leu436=
XM_011538174.1:c.1303C= XP_011536476.1:p.Leu435=
XM_011538175.1:c.1288C= XP_011536477.1:p.Leu430=
XM_011538176.1:c.1249C= XP_011536478.1:p.Leu417=
XM_011538177.1:c.1228C= XP_011536479.1:p.Leu410=
XM_011538178.1:c.1087C= XP_011536480.1:p.Leu363=
XM_011538179.1:c.1200+311C= XP_011536481.1:n.1200+311C=
XM_011538180.1:c.973C= XP_011536482.1:p.Leu325=
XM_011538181.1:c.970C= XP_011536483.1:p.Leu324=
XM_011538182.1:c.895C= XP_011536484.1:p.Leu299=
XM_011538183.1:c.1201-210C= XP_011536485.1:n.1201-210C=
XM_011538184.1:c.1220+291C= XP_011536486.1:n.1220+291C=
XM_011538185.1:c.856-1241C= XP_011536487.1:n.856-1241C=
XM_011538186.1:c.421C= XP_011536488.1:p.Leu141=
NM_001164690.2:c.1246C= NP_001158162.1:p.Leu416=
NM_001164691.2:c.1140+311C= NP_001158163.1:n.1140+311C=
NM_020547.3:c.1246C= MANE Select NP_065434.1:p.Leu416=
XM_011538183.2:c.1201-210C= XP_011536485.1:n.1201-210C=
XM_011538184.2:c.1220+291C= XP_011536486.1:n.1220+291C=
XM_011538186.3:c.421C= XP_011536488.1:p.Leu141=
XM_017019179.2:c.1306C= XP_016874668.1:p.Leu436=
XM_024448938.1:c.1143+311C= XP_024304706.1:n.1143+311C=
XR_002957309.1:n.1214C=
XR_002957310.1:n.1109-210C=
XR_002957311.1:n.1214C=
XR_002957312.1:n.1108+311C=