Canonical Allele Identifier: CA5342832

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 735097
• ClinVar RCV Id: RCV000910591 ; RCV001165477
• dbSNP Id: rs117434864
• ExAC: 9:139568300 G / A
• gnomAD v2: 9-139568300-G-A
• gnomAD v3: 9-136673848-G-A
• gnomAD v4: 9-136673848-G-A
• MyVariant Identifiers: chr9:g.139568300G>A (hg19) ; chr9:g.136673848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136673848G>A , CM000671.2:g.136673848G>A	GRCh38
NC_000009.11:g.139568300G>A , CM000671.1:g.139568300G>A	GRCh37
NC_000009.10:g.138688121G>A	NCBI36
NG_008090.1:g.18612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.741C>T MANE Select	ENSP00000360761.2:p.Thr247=
ENST00000371694.7:c.645C>T	ENSP00000360759.3:p.Thr215=
ENST00000371696.6:c.741C>T	ENSP00000360761.2:p.Thr247=
ENST00000472820.1:n.669C>T
ENST00000538402.1:c.741C>T	ENSP00000438919.1:p.Thr247=
NM_001012727.1:c.645C>T	NP_001012745.1:p.Thr215=
NM_006412.3:c.741C>T	NP_006403.2:p.Thr247=
NM_006412.4:c.741C>T MANE Select	NP_006403.2:p.Thr247=
NM_001012727.2:c.645C>T	NP_001012745.1:p.Thr215=