Canonical Allele Identifier: CA689935899

Gene: AMHR2

Linked Data

• dbSNP Id: rs1340891105
• gnomAD v3: 12-53429786-ATT-A
• gnomAD v4: 12-53429786-ATT-A
• MyVariant Identifiers: chr12:g.53823571_53823572del (hg19) ; chr12:g.53429787_53429788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429787_53429788del , CM000674.2:g.53429787_53429788del	GRCh38
NC_000012.11:g.53823571_53823572del , CM000674.1:g.53823571_53823572del	GRCh37
NC_000012.10:g.52109838_52109839del	NCBI36
NG_015981.1:g.10933_10934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1141-44_1141-43del MANE Select	ENSP00000257863.3:n.1141-44_1141-43del
ENST00000257863.8:c.1141-44_1141-43del	ENSP00000257863.3:n.1141-44_1141-43del
ENST00000379791.7:c.1140+162_1140+163del	ENSP00000369117.3:n.1140+162_1140+163del
ENST00000550311.5:c.1141-44_1141-43del	ENSP00000446661.1:n.1141-44_1141-43del
ENST00000550839.1:c.232-44_232-43del	ENSP00000455338.1:n.232-44_232-43del
ENST00000552233.5:n.685_686del
NM_001164690.1:c.1141-44_1141-43del	NP_001158162.1:n.1141-44_1141-43del
NM_001164691.1:c.1140+162_1140+163del	NP_001158163.1:n.1140+162_1140+163del
NM_020547.2:c.1141-44_1141-43del	NP_065434.1:n.1141-44_1141-43del
XM_011538173.1:c.1201-44_1201-43del	XP_011536475.1:n.1201-44_1201-43del
XM_011538174.1:c.1198-44_1198-43del	XP_011536476.1:n.1198-44_1198-43del
XM_011538175.1:c.1183-44_1183-43del	XP_011536477.1:n.1183-44_1183-43del
XM_011538176.1:c.1144-44_1144-43del	XP_011536478.1:n.1144-44_1144-43del
XM_011538177.1:c.1123-44_1123-43del	XP_011536479.1:n.1123-44_1123-43del
XM_011538178.1:c.982-44_982-43del	XP_011536480.1:n.982-44_982-43del
XM_011538179.1:c.1200+162_1200+163del	XP_011536481.1:n.1200+162_1200+163del
XM_011538180.1:c.868-44_868-43del	XP_011536482.1:n.868-44_868-43del
XM_011538181.1:c.865-44_865-43del	XP_011536483.1:n.865-44_865-43del
XM_011538182.1:c.790-44_790-43del	XP_011536484.1:n.790-44_790-43del
XM_011538183.1:c.1200+162_1200+163del	XP_011536485.1:n.1200+162_1200+163del
XM_011538184.1:c.1220+142_1220+143del	XP_011536486.1:n.1220+142_1220+143del
XM_011538185.1:c.856-1390_856-1389del	XP_011536487.1:n.856-1390_856-1389del
XM_011538186.1:c.316-44_316-43del	XP_011536488.1:n.316-44_316-43del
NM_001164690.2:c.1141-44_1141-43del	NP_001158162.1:n.1141-44_1141-43del
NM_001164691.2:c.1140+162_1140+163del	NP_001158163.1:n.1140+162_1140+163del
NM_020547.3:c.1141-44_1141-43del MANE Select	NP_065434.1:n.1141-44_1141-43del
XM_011538183.2:c.1200+162_1200+163del	XP_011536485.1:n.1200+162_1200+163del
XM_011538184.2:c.1220+142_1220+143del	XP_011536486.1:n.1220+142_1220+143del
XM_011538186.3:c.316-44_316-43del	XP_011536488.1:n.316-44_316-43del
XM_017019179.2:c.1201-44_1201-43del	XP_016874668.1:n.1201-44_1201-43del
XM_024448938.1:c.1143+162_1143+163del	XP_024304706.1:n.1143+162_1143+163del
XR_002957309.1:n.1109-44_1109-43del
XR_002957310.1:n.1108+162_1108+163del
XR_002957311.1:n.1109-44_1109-43del
XR_002957312.1:n.1108+162_1108+163del