Canonical Allele Identifier: CA2036978837
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429941G= , CM000674.2:g.53429941G= GRCh38
NC_000012.11:g.53823725G= , CM000674.1:g.53823725G= GRCh37
NC_000012.10:g.52109992G= NCBI36
NG_015981.1:g.11087G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1251G= MANE Select ENSP00000257863.3:p.Leu417=
ENST00000257863.8:c.1251G= ENSP00000257863.3:p.Leu417=
ENST00000379791.7:c.1140+316G= ENSP00000369117.3:n.1140+316G=
ENST00000550311.5:c.1251G= ENSP00000446661.1:p.Leu417=
ENST00000550839.1:c.342G= ENSP00000455338.1:p.Leu114=
ENST00000552233.5:n.839G=
NM_001164690.1:c.1251G= NP_001158162.1:p.Leu417=
NM_001164691.1:c.1140+316G= NP_001158163.1:n.1140+316G=
NM_020547.2:c.1251G= NP_065434.1:p.Leu417=
XM_011538173.1:c.1311G= XP_011536475.1:p.Leu437=
XM_011538174.1:c.1308G= XP_011536476.1:p.Leu436=
XM_011538175.1:c.1293G= XP_011536477.1:p.Leu431=
XM_011538176.1:c.1254G= XP_011536478.1:p.Leu418=
XM_011538177.1:c.1233G= XP_011536479.1:p.Leu411=
XM_011538178.1:c.1092G= XP_011536480.1:p.Leu364=
XM_011538179.1:c.1200+316G= XP_011536481.1:n.1200+316G=
XM_011538180.1:c.978G= XP_011536482.1:p.Leu326=
XM_011538181.1:c.975G= XP_011536483.1:p.Leu325=
XM_011538182.1:c.900G= XP_011536484.1:p.Leu300=
XM_011538183.1:c.1201-205G= XP_011536485.1:n.1201-205G=
XM_011538184.1:c.1220+296G= XP_011536486.1:n.1220+296G=
XM_011538185.1:c.856-1236G= XP_011536487.1:n.856-1236G=
XM_011538186.1:c.426G= XP_011536488.1:p.Leu142=
NM_001164690.2:c.1251G= NP_001158162.1:p.Leu417=
NM_001164691.2:c.1140+316G= NP_001158163.1:n.1140+316G=
NM_020547.3:c.1251G= MANE Select NP_065434.1:p.Leu417=
XM_011538183.2:c.1201-205G= XP_011536485.1:n.1201-205G=
XM_011538184.2:c.1220+296G= XP_011536486.1:n.1220+296G=
XM_011538186.3:c.426G= XP_011536488.1:p.Leu142=
XM_017019179.2:c.1311G= XP_016874668.1:p.Leu437=
XM_024448938.1:c.1143+316G= XP_024304706.1:n.1143+316G=
XR_002957309.1:n.1219G=
XR_002957310.1:n.1109-205G=
XR_002957311.1:n.1219G=
XR_002957312.1:n.1108+316G=