Canonical Allele Identifier: CA5342949

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 372108
• ClinVar RCV Id: RCV000412645 ; RCV000494007
• dbSNP Id: rs748157664
• ExAC: 9:139571111 C / T
• gnomAD v2: 9-139571111-C-T
• gnomAD v3: 9-136676659-C-T
• gnomAD v4: 9-136676659-C-T
• MyVariant Identifiers: chr9:g.139571111C>T (hg19) ; chr9:g.136676659C>T (hg38)
• PubMed: PMID:20301391

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676659C>T , CM000671.2:g.136676659C>T	GRCh38
NC_000009.11:g.139571111C>T , CM000671.1:g.139571111C>T	GRCh37
NC_000009.10:g.138690932C>T	NCBI36
NG_008090.1:g.15801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.514G>A MANE Select	ENSP00000360761.2:p.Glu172Lys
ENST00000371694.7:c.492+302G>A	ENSP00000360759.3:n.492+302G>A
ENST00000371696.6:c.514G>A	ENSP00000360761.2:p.Glu172Lys
ENST00000472820.1:n.442G>A
ENST00000538402.1:c.514G>A	ENSP00000438919.1:p.Glu172Lys
NM_001012727.1:c.492+302G>A	NP_001012745.1:n.492+302G>A
NM_006412.3:c.514G>A	NP_006403.2:p.Glu172Lys
NM_006412.4:c.514G>A MANE Select	NP_006403.2:p.Glu172Lys
NM_001012727.2:c.492+302G>A	NP_001012745.1:n.492+302G>A