Canonical Allele Identifier: CA2619053018

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429794-AGAGATGATTCTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429796_53429808del , CM000674.2:g.53429796_53429808del	GRCh38
NC_000012.11:g.53823580_53823592del , CM000674.1:g.53823580_53823592del	GRCh37
NC_000012.10:g.52109847_52109859del	NCBI36
NG_015981.1:g.10942_10954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1141-35_1141-23del MANE Select	ENSP00000257863.3:n.1141-35_1141-23del
ENST00000257863.8:c.1141-35_1141-23del	ENSP00000257863.3:n.1141-35_1141-23del
ENST00000379791.7:c.1140+171_1140+183del	ENSP00000369117.3:n.1140+171_1140+183del
ENST00000550311.5:c.1141-35_1141-23del	ENSP00000446661.1:n.1141-35_1141-23del
ENST00000550839.1:c.232-35_232-23del	ENSP00000455338.1:n.232-35_232-23del
ENST00000552233.5:n.694_706del
NM_001164690.1:c.1141-35_1141-23del	NP_001158162.1:n.1141-35_1141-23del
NM_001164691.1:c.1140+171_1140+183del	NP_001158163.1:n.1140+171_1140+183del
NM_020547.2:c.1141-35_1141-23del	NP_065434.1:n.1141-35_1141-23del
XM_011538173.1:c.1201-35_1201-23del	XP_011536475.1:n.1201-35_1201-23del
XM_011538174.1:c.1198-35_1198-23del	XP_011536476.1:n.1198-35_1198-23del
XM_011538175.1:c.1183-35_1183-23del	XP_011536477.1:n.1183-35_1183-23del
XM_011538176.1:c.1144-35_1144-23del	XP_011536478.1:n.1144-35_1144-23del
XM_011538177.1:c.1123-35_1123-23del	XP_011536479.1:n.1123-35_1123-23del
XM_011538178.1:c.982-35_982-23del	XP_011536480.1:n.982-35_982-23del
XM_011538179.1:c.1200+171_1200+183del	XP_011536481.1:n.1200+171_1200+183del
XM_011538180.1:c.868-35_868-23del	XP_011536482.1:n.868-35_868-23del
XM_011538181.1:c.865-35_865-23del	XP_011536483.1:n.865-35_865-23del
XM_011538182.1:c.790-35_790-23del	XP_011536484.1:n.790-35_790-23del
XM_011538183.1:c.1200+171_1200+183del	XP_011536485.1:n.1200+171_1200+183del
XM_011538184.1:c.1220+151_1220+163del	XP_011536486.1:n.1220+151_1220+163del
XM_011538185.1:c.856-1381_856-1369del	XP_011536487.1:n.856-1381_856-1369del
XM_011538186.1:c.316-35_316-23del	XP_011536488.1:n.316-35_316-23del
NM_001164690.2:c.1141-35_1141-23del	NP_001158162.1:n.1141-35_1141-23del
NM_001164691.2:c.1140+171_1140+183del	NP_001158163.1:n.1140+171_1140+183del
NM_020547.3:c.1141-35_1141-23del MANE Select	NP_065434.1:n.1141-35_1141-23del
XM_011538183.2:c.1200+171_1200+183del	XP_011536485.1:n.1200+171_1200+183del
XM_011538184.2:c.1220+151_1220+163del	XP_011536486.1:n.1220+151_1220+163del
XM_011538186.3:c.316-35_316-23del	XP_011536488.1:n.316-35_316-23del
XM_017019179.2:c.1201-35_1201-23del	XP_016874668.1:n.1201-35_1201-23del
XM_024448938.1:c.1143+171_1143+183del	XP_024304706.1:n.1143+171_1143+183del
XR_002957309.1:n.1109-35_1109-23del
XR_002957310.1:n.1108+171_1108+183del
XR_002957311.1:n.1109-35_1109-23del
XR_002957312.1:n.1108+171_1108+183del