Canonical Allele Identifier: CA375580933

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 591559
• ClinVar RCV Id: RCV000722740
• dbSNP Id: rs1564290861
• gnomAD v4: 9-136676616-T-G
• MyVariant Identifiers: chr9:g.139571068T>G (hg19) ; chr9:g.136676616T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676616T>G , CM000671.2:g.136676616T>G	GRCh38
NC_000009.11:g.139571068T>G , CM000671.1:g.139571068T>G	GRCh37
NC_000009.10:g.138690889T>G	NCBI36
NG_008090.1:g.15844A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.557A>C MANE Select	ENSP00000360761.2:p.Lys186Thr
ENST00000371694.7:c.492+345A>C	ENSP00000360759.3:n.492+345A>C
ENST00000371696.6:c.557A>C	ENSP00000360761.2:p.Lys186Thr
ENST00000472820.1:n.485A>C
ENST00000538402.1:c.557A>C	ENSP00000438919.1:p.Lys186Thr
NM_001012727.1:c.492+345A>C	NP_001012745.1:n.492+345A>C
NM_006412.3:c.557A>C	NP_006403.2:p.Lys186Thr
NM_006412.4:c.557A>C MANE Select	NP_006403.2:p.Lys186Thr
NM_001012727.2:c.492+345A>C	NP_001012745.1:n.492+345A>C