Canonical Allele Identifier: CA2619053222

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429933-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429934del , CM000674.2:g.53429934del	GRCh38
NC_000012.11:g.53823718del , CM000674.1:g.53823718del	GRCh37
NC_000012.10:g.52109985del	NCBI36
NG_015981.1:g.11080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1244del MANE Select	ENSP00000257863.3:p.Leu415ArgfsTer7
ENST00000257863.8:c.1244del	ENSP00000257863.3:p.Leu415ArgfsTer7
ENST00000379791.7:c.1140+309del	ENSP00000369117.3:n.1140+309del
ENST00000550311.5:c.1244del	ENSP00000446661.1:p.Leu415ArgfsTer7
ENST00000550839.1:c.335del	ENSP00000455338.1:p.Leu112ArgfsTer7
ENST00000552233.5:n.832del
NM_001164690.1:c.1244del	NP_001158162.1:p.Leu415ArgfsTer7
NM_001164691.1:c.1140+309del	NP_001158163.1:n.1140+309del
NM_020547.2:c.1244del	NP_065434.1:p.Leu415ArgfsTer7
XM_011538173.1:c.1304del	XP_011536475.1:p.Leu435ArgfsTer7
XM_011538174.1:c.1301del	XP_011536476.1:p.Leu434ArgfsTer7
XM_011538175.1:c.1286del	XP_011536477.1:p.Leu429ArgfsTer7
XM_011538176.1:c.1247del	XP_011536478.1:p.Leu416ArgfsTer7
XM_011538177.1:c.1226del	XP_011536479.1:p.Leu409ArgfsTer7
XM_011538178.1:c.1085del	XP_011536480.1:p.Leu362ArgfsTer7
XM_011538179.1:c.1200+309del	XP_011536481.1:n.1200+309del
XM_011538180.1:c.971del	XP_011536482.1:p.Leu324ArgfsTer7
XM_011538181.1:c.968del	XP_011536483.1:p.Leu323ArgfsTer7
XM_011538182.1:c.893del	XP_011536484.1:p.Leu298ArgfsTer7
XM_011538183.1:c.1201-212del	XP_011536485.1:n.1201-212del
XM_011538184.1:c.1220+289del	XP_011536486.1:n.1220+289del
XM_011538185.1:c.856-1243del	XP_011536487.1:n.856-1243del
XM_011538186.1:c.419del	XP_011536488.1:p.Leu140ArgfsTer7
NM_001164690.2:c.1244del	NP_001158162.1:p.Leu415ArgfsTer7
NM_001164691.2:c.1140+309del	NP_001158163.1:n.1140+309del
NM_020547.3:c.1244del MANE Select	NP_065434.1:p.Leu415ArgfsTer7
XM_011538183.2:c.1201-212del	XP_011536485.1:n.1201-212del
XM_011538184.2:c.1220+289del	XP_011536486.1:n.1220+289del
XM_011538186.3:c.419del	XP_011536488.1:p.Leu140ArgfsTer7
XM_017019179.2:c.1304del	XP_016874668.1:p.Leu435ArgfsTer7
XM_024448938.1:c.1143+309del	XP_024304706.1:n.1143+309del
XR_002957309.1:n.1212del
XR_002957310.1:n.1109-212del
XR_002957311.1:n.1212del
XR_002957312.1:n.1108+309del