Canonical Allele Identifier: CA2695216888
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429854_53429855del , CM000674.2:g.53429854_53429855del GRCh38
NC_000012.11:g.53823638_53823639del , CM000674.1:g.53823638_53823639del GRCh37
NC_000012.10:g.52109905_52109906del NCBI36
NG_015981.1:g.11000_11001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1164_1165del MANE Select ENSP00000257863.3:p.Pro389ArgfsTer20
ENST00000257863.8:c.1164_1165del ENSP00000257863.3:p.Pro389ArgfsTer20
ENST00000379791.7:c.1140+229_1140+230del ENSP00000369117.3:n.1140+229_1140+230del
ENST00000550311.5:c.1164_1165del ENSP00000446661.1:p.Pro389ArgfsTer20
ENST00000550839.1:c.255_256del ENSP00000455338.1:p.Pro86ArgfsTer20
ENST00000552233.5:n.752_753del
NM_001164690.1:c.1164_1165del NP_001158162.1:p.Pro389ArgfsTer20
NM_001164691.1:c.1140+229_1140+230del NP_001158163.1:n.1140+229_1140+230del
NM_020547.2:c.1164_1165del NP_065434.1:p.Pro389ArgfsTer20
XM_011538173.1:c.1224_1225del XP_011536475.1:p.Pro409ArgfsTer20
XM_011538174.1:c.1221_1222del XP_011536476.1:p.Pro408ArgfsTer20
XM_011538175.1:c.1206_1207del XP_011536477.1:p.Pro403ArgfsTer20
XM_011538176.1:c.1167_1168del XP_011536478.1:p.Pro390ArgfsTer20
XM_011538177.1:c.1146_1147del XP_011536479.1:p.Pro383ArgfsTer20
XM_011538178.1:c.1005_1006del XP_011536480.1:p.Pro336ArgfsTer20
XM_011538179.1:c.1200+229_1200+230del XP_011536481.1:n.1200+229_1200+230del
XM_011538180.1:c.891_892del XP_011536482.1:p.Pro298ArgfsTer20
XM_011538181.1:c.888_889del XP_011536483.1:p.Pro297ArgfsTer20
XM_011538182.1:c.813_814del XP_011536484.1:p.Pro272ArgfsTer20
XM_011538183.1:c.1200+229_1200+230del XP_011536485.1:n.1200+229_1200+230del
XM_011538184.1:c.1220+209_1220+210del XP_011536486.1:n.1220+209_1220+210del
XM_011538185.1:c.856-1323_856-1322del XP_011536487.1:n.856-1323_856-1322del
XM_011538186.1:c.339_340del XP_011536488.1:p.Pro114ArgfsTer20
NM_001164690.2:c.1164_1165del NP_001158162.1:p.Pro389ArgfsTer20
NM_001164691.2:c.1140+229_1140+230del NP_001158163.1:n.1140+229_1140+230del
NM_020547.3:c.1164_1165del MANE Select NP_065434.1:p.Pro389ArgfsTer20
XM_011538183.2:c.1200+229_1200+230del XP_011536485.1:n.1200+229_1200+230del
XM_011538184.2:c.1220+209_1220+210del XP_011536486.1:n.1220+209_1220+210del
XM_011538186.3:c.339_340del XP_011536488.1:p.Pro114ArgfsTer20
XM_017019179.2:c.1224_1225del XP_016874668.1:p.Pro409ArgfsTer20
XM_024448938.1:c.1143+229_1143+230del XP_024304706.1:n.1143+229_1143+230del
XR_002957309.1:n.1132_1133del
XR_002957310.1:n.1108+229_1108+230del
XR_002957311.1:n.1132_1133del
XR_002957312.1:n.1108+229_1108+230del