Canonical Allele Identifier: CA2619052943

Gene: AMHR2

Linked Data

• dbSNP Id: rs2136969609
• gnomAD v4: 12-53429768-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429770del , CM000674.2:g.53429770del	GRCh38
NC_000012.11:g.53823554del , CM000674.1:g.53823554del	GRCh37
NC_000012.10:g.52109821del	NCBI36
NG_015981.1:g.10916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1141-61del MANE Select	ENSP00000257863.3:n.1141-61del
ENST00000257863.8:c.1141-61del	ENSP00000257863.3:n.1141-61del
ENST00000379791.7:c.1140+145del	ENSP00000369117.3:n.1140+145del
ENST00000550311.5:c.1141-61del	ENSP00000446661.1:n.1141-61del
ENST00000550839.1:c.232-61del	ENSP00000455338.1:n.232-61del
ENST00000552233.5:n.668del
NM_001164690.1:c.1141-61del	NP_001158162.1:n.1141-61del
NM_001164691.1:c.1140+145del	NP_001158163.1:n.1140+145del
NM_020547.2:c.1141-61del	NP_065434.1:n.1141-61del
XM_011538173.1:c.1201-61del	XP_011536475.1:n.1201-61del
XM_011538174.1:c.1198-61del	XP_011536476.1:n.1198-61del
XM_011538175.1:c.1183-61del	XP_011536477.1:n.1183-61del
XM_011538176.1:c.1144-61del	XP_011536478.1:n.1144-61del
XM_011538177.1:c.1123-61del	XP_011536479.1:n.1123-61del
XM_011538178.1:c.982-61del	XP_011536480.1:n.982-61del
XM_011538179.1:c.1200+145del	XP_011536481.1:n.1200+145del
XM_011538180.1:c.868-61del	XP_011536482.1:n.868-61del
XM_011538181.1:c.865-61del	XP_011536483.1:n.865-61del
XM_011538182.1:c.790-61del	XP_011536484.1:n.790-61del
XM_011538183.1:c.1200+145del	XP_011536485.1:n.1200+145del
XM_011538184.1:c.1220+125del	XP_011536486.1:n.1220+125del
XM_011538185.1:c.856-1407del	XP_011536487.1:n.856-1407del
XM_011538186.1:c.316-61del	XP_011536488.1:n.316-61del
NM_001164690.2:c.1141-61del	NP_001158162.1:n.1141-61del
NM_001164691.2:c.1140+145del	NP_001158163.1:n.1140+145del
NM_020547.3:c.1141-61del MANE Select	NP_065434.1:n.1141-61del
XM_011538183.2:c.1200+145del	XP_011536485.1:n.1200+145del
XM_011538184.2:c.1220+125del	XP_011536486.1:n.1220+125del
XM_011538186.3:c.316-61del	XP_011536488.1:n.316-61del
XM_017019179.2:c.1201-61del	XP_016874668.1:n.1201-61del
XM_024448938.1:c.1143+145del	XP_024304706.1:n.1143+145del
XR_002957309.1:n.1109-61del
XR_002957310.1:n.1108+145del
XR_002957311.1:n.1109-61del
XR_002957312.1:n.1108+145del