Canonical Allele Identifier: CA2831709729
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53430016_53430020del , CM000674.2:g.53430016_53430020del GRCh38
NC_000012.11:g.53823800_53823804del , CM000674.1:g.53823800_53823804del GRCh37
NC_000012.10:g.52110067_52110071del NCBI36
NG_015981.1:g.11162_11166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1288+38_1288+42del MANE Select ENSP00000257863.3:n.1288+38_1288+42del
ENST00000257863.8:c.1288+38_1288+42del ENSP00000257863.3:n.1288+38_1288+42del
ENST00000379791.7:c.1140+391_1140+395del ENSP00000369117.3:n.1140+391_1140+395del
ENST00000550311.5:c.1288+38_1288+42del ENSP00000446661.1:n.1288+38_1288+42del
ENST00000550839.1:c.379+38_379+42del ENSP00000455338.1:n.379+38_379+42del
ENST00000552233.5:n.914_918del
NM_001164690.1:c.1288+38_1288+42del NP_001158162.1:n.1288+38_1288+42del
NM_001164691.1:c.1140+391_1140+395del NP_001158163.1:n.1140+391_1140+395del
NM_020547.2:c.1288+38_1288+42del NP_065434.1:n.1288+38_1288+42del
XM_011538173.1:c.1348+38_1348+42del XP_011536475.1:n.1348+38_1348+42del
XM_011538174.1:c.1345+38_1345+42del XP_011536476.1:n.1345+38_1345+42del
XM_011538175.1:c.1330+38_1330+42del XP_011536477.1:n.1330+38_1330+42del
XM_011538176.1:c.1291+38_1291+42del XP_011536478.1:n.1291+38_1291+42del
XM_011538177.1:c.1270+38_1270+42del XP_011536479.1:n.1270+38_1270+42del
XM_011538178.1:c.1129+38_1129+42del XP_011536480.1:n.1129+38_1129+42del
XM_011538179.1:c.1200+391_1200+395del XP_011536481.1:n.1200+391_1200+395del
XM_011538180.1:c.1015+38_1015+42del XP_011536482.1:n.1015+38_1015+42del
XM_011538181.1:c.1012+38_1012+42del XP_011536483.1:n.1012+38_1012+42del
XM_011538182.1:c.937+38_937+42del XP_011536484.1:n.937+38_937+42del
XM_011538183.1:c.1201-130_1201-126del XP_011536485.1:n.1201-130_1201-126del
XM_011538184.1:c.1220+371_1220+375del XP_011536486.1:n.1220+371_1220+375del
XM_011538185.1:c.856-1161_856-1157del XP_011536487.1:n.856-1161_856-1157del
XM_011538186.1:c.463+38_463+42del XP_011536488.1:n.463+38_463+42del
NM_001164690.2:c.1288+38_1288+42del NP_001158162.1:n.1288+38_1288+42del
NM_001164691.2:c.1140+391_1140+395del NP_001158163.1:n.1140+391_1140+395del
NM_020547.3:c.1288+38_1288+42del MANE Select NP_065434.1:n.1288+38_1288+42del
XM_011538183.2:c.1201-130_1201-126del XP_011536485.1:n.1201-130_1201-126del
XM_011538184.2:c.1220+371_1220+375del XP_011536486.1:n.1220+371_1220+375del
XM_011538186.3:c.463+38_463+42del XP_011536488.1:n.463+38_463+42del
XM_017019179.2:c.1348+38_1348+42del XP_016874668.1:n.1348+38_1348+42del
XM_024448938.1:c.1143+391_1143+395del XP_024304706.1:n.1143+391_1143+395del
XR_002957309.1:n.1256+38_1256+42del
XR_002957310.1:n.1109-130_1109-126del
XR_002957311.1:n.1256+38_1256+42del
XR_002957312.1:n.1108+391_1108+395del