Canonical Allele Identifier: CA5342897

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 393424
• ClinVar RCV Id: RCV000445463 ; RCV000909273 ; RCV002467799
• dbSNP Id: rs142248792
• ExAC: 9:139569208 T / C
• gnomAD v2: 9-139569208-T-C
• gnomAD v3: 9-136674756-T-C
• gnomAD v4: 9-136674756-T-C
• MyVariant Identifiers: chr9:g.139569208T>C (hg19) ; chr9:g.136674756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674756T>C , CM000671.2:g.136674756T>C	GRCh38
NC_000009.11:g.139569208T>C , CM000671.1:g.139569208T>C	GRCh37
NC_000009.10:g.138689029T>C	NCBI36
NG_008090.1:g.17704A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.640A>G MANE Select	ENSP00000360761.2:p.Lys214Glu
ENST00000371694.7:c.544A>G	ENSP00000360759.3:p.Lys182Glu
ENST00000371696.6:c.640A>G	ENSP00000360761.2:p.Lys214Glu
ENST00000472820.1:n.568A>G
ENST00000538402.1:c.640A>G	ENSP00000438919.1:p.Lys214Glu
NM_001012727.1:c.544A>G	NP_001012745.1:p.Lys182Glu
NM_006412.3:c.640A>G	NP_006403.2:p.Lys214Glu
NM_006412.4:c.640A>G MANE Select	NP_006403.2:p.Lys214Glu
NM_001012727.2:c.544A>G	NP_001012745.1:p.Lys182Glu