Canonical Allele Identifier: CA2695216889

Gene: AMHR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429876_53429877del , CM000674.2:g.53429876_53429877del	GRCh38
NC_000012.11:g.53823660_53823661del , CM000674.1:g.53823660_53823661del	GRCh37
NC_000012.10:g.52109927_52109928del	NCBI36
NG_015981.1:g.11022_11023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1186_1187del MANE Select	ENSP00000257863.3:p.Leu396GlyfsTer13
ENST00000257863.8:c.1186_1187del	ENSP00000257863.3:p.Leu396GlyfsTer13
ENST00000379791.7:c.1140+251_1140+252del	ENSP00000369117.3:n.1140+251_1140+252del
ENST00000550311.5:c.1186_1187del	ENSP00000446661.1:p.Leu396GlyfsTer13
ENST00000550839.1:c.277_278del	ENSP00000455338.1:p.Leu93GlyfsTer13
ENST00000552233.5:n.774_775del
NM_001164690.1:c.1186_1187del	NP_001158162.1:p.Leu396GlyfsTer13
NM_001164691.1:c.1140+251_1140+252del	NP_001158163.1:n.1140+251_1140+252del
NM_020547.2:c.1186_1187del	NP_065434.1:p.Leu396GlyfsTer13
XM_011538173.1:c.1246_1247del	XP_011536475.1:p.Leu416GlyfsTer13
XM_011538174.1:c.1243_1244del	XP_011536476.1:p.Leu415GlyfsTer13
XM_011538175.1:c.1228_1229del	XP_011536477.1:p.Leu410GlyfsTer13
XM_011538176.1:c.1189_1190del	XP_011536478.1:p.Leu397GlyfsTer13
XM_011538177.1:c.1168_1169del	XP_011536479.1:p.Leu390GlyfsTer13
XM_011538178.1:c.1027_1028del	XP_011536480.1:p.Leu343GlyfsTer13
XM_011538179.1:c.1200+251_1200+252del	XP_011536481.1:n.1200+251_1200+252del
XM_011538180.1:c.913_914del	XP_011536482.1:p.Leu305GlyfsTer13
XM_011538181.1:c.910_911del	XP_011536483.1:p.Leu304GlyfsTer13
XM_011538182.1:c.835_836del	XP_011536484.1:p.Leu279GlyfsTer13
XM_011538183.1:c.1200+251_1200+252del	XP_011536485.1:n.1200+251_1200+252del
XM_011538184.1:c.1220+231_1220+232del	XP_011536486.1:n.1220+231_1220+232del
XM_011538185.1:c.856-1301_856-1300del	XP_011536487.1:n.856-1301_856-1300del
XM_011538186.1:c.361_362del	XP_011536488.1:p.Leu121GlyfsTer13
NM_001164690.2:c.1186_1187del	NP_001158162.1:p.Leu396GlyfsTer13
NM_001164691.2:c.1140+251_1140+252del	NP_001158163.1:n.1140+251_1140+252del
NM_020547.3:c.1186_1187del MANE Select	NP_065434.1:p.Leu396GlyfsTer13
XM_011538183.2:c.1200+251_1200+252del	XP_011536485.1:n.1200+251_1200+252del
XM_011538184.2:c.1220+231_1220+232del	XP_011536486.1:n.1220+231_1220+232del
XM_011538186.3:c.361_362del	XP_011536488.1:p.Leu121GlyfsTer13
XM_017019179.2:c.1246_1247del	XP_016874668.1:p.Leu416GlyfsTer13
XM_024448938.1:c.1143+251_1143+252del	XP_024304706.1:n.1143+251_1143+252del
XR_002957309.1:n.1154_1155del
XR_002957310.1:n.1108+251_1108+252del
XR_002957311.1:n.1154_1155del
XR_002957312.1:n.1108+251_1108+252del