Canonical Allele Identifier: CA5342894

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 365922
• ClinVar RCV Id: RCV000412630 ; RCV000880987
• dbSNP Id: rs138994150
• ExAC: 9:139569202 T / A
• gnomAD v2: 9-139569202-T-A
• gnomAD v3: 9-136674750-T-A
• gnomAD v4: 9-136674750-T-A
• MyVariant Identifiers: chr9:g.139569202T>A (hg19) ; chr9:g.136674750T>A (hg38)
• PubMed: PMID:12765973 ; PMID:20301391 ; PMID:25525159 ; PMID:27144933

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674750T>A , CM000671.2:g.136674750T>A	GRCh38
NC_000009.11:g.139569202T>A , CM000671.1:g.139569202T>A	GRCh37
NC_000009.10:g.138689023T>A	NCBI36
NG_008090.1:g.17710A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.646A>T MANE Select	ENSP00000360761.2:p.Lys216Ter
ENST00000371694.7:c.550A>T	ENSP00000360759.3:p.Lys184Ter
ENST00000371696.6:c.646A>T	ENSP00000360761.2:p.Lys216Ter
ENST00000472820.1:n.574A>T
ENST00000538402.1:c.646A>T	ENSP00000438919.1:p.Lys216Ter
NM_001012727.1:c.550A>T	NP_001012745.1:p.Lys184Ter
NM_006412.3:c.646A>T	NP_006403.2:p.Lys216Ter
NM_006412.4:c.646A>T MANE Select	NP_006403.2:p.Lys216Ter
NM_001012727.2:c.550A>T	NP_001012745.1:p.Lys184Ter