Canonical Allele Identifier: CA375576114

Gene: AGPAT2

Linked Data

• dbSNP Id: rs368902934
• gnomAD v2: 9-139568221-C-A
• gnomAD v4: 9-136673769-C-A
• MyVariant Identifiers: chr9:g.139568221C>A (hg19) ; chr9:g.136673769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673769C>A , CM000671.2:g.136673769C>A	GRCh38
NC_000009.11:g.139568221C>A , CM000671.1:g.139568221C>A	GRCh37
NC_000009.10:g.138688042C>A	NCBI36
NG_008090.1:g.18691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.820G>T MANE Select	ENSP00000360761.2:p.Val274Leu
ENST00000371694.7:c.724G>T	ENSP00000360759.3:p.Val242Leu
ENST00000371696.6:c.820G>T	ENSP00000360761.2:p.Val274Leu
ENST00000472820.1:n.748G>T
ENST00000538402.1:c.820G>T	ENSP00000438919.1:p.Val274Leu
NM_001012727.1:c.724G>T	NP_001012745.1:p.Val242Leu
NM_006412.3:c.820G>T	NP_006403.2:p.Val274Leu
NM_006412.4:c.820G>T MANE Select	NP_006403.2:p.Val274Leu
NM_001012727.2:c.724G>T	NP_001012745.1:p.Val242Leu