Canonical Allele Identifier: CA591367747

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1385985909
• gnomAD v2: 9-139568271-AG-A
• gnomAD v3: 9-136673819-AG-A
• gnomAD v4: 9-136673819-AG-A
• MyVariant Identifiers: chr9:g.139568272del (hg19) ; chr9:g.136673820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673821del , CM000671.2:g.136673821del	GRCh38
NC_000009.11:g.139568273del , CM000671.1:g.139568273del	GRCh37
NC_000009.10:g.138688094del	NCBI36
NG_008090.1:g.18640del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.769del MANE Select	ENSP00000360761.2:p.Leu257SerfsTer30
ENST00000371694.7:c.673del	ENSP00000360759.3:p.Leu225SerfsTer30
ENST00000371696.6:c.769del	ENSP00000360761.2:p.Leu257SerfsTer30
ENST00000472820.1:n.697del
ENST00000538402.1:c.769del	ENSP00000438919.1:p.Leu257SerfsTer30
NM_001012727.1:c.673del	NP_001012745.1:p.Leu225SerfsTer30
NM_006412.3:c.769del	NP_006403.2:p.Leu257SerfsTer30
NM_006412.4:c.769del MANE Select	NP_006403.2:p.Leu257SerfsTer30
NM_001012727.2:c.673del	NP_001012745.1:p.Leu225SerfsTer30