Canonical Allele Identifier: CA5342951

Gene: AGPAT2

Linked Data

• dbSNP Id: rs770901917
• ExAC: 9:139571112 G / C
• gnomAD v2: 9-139571112-G-C
• gnomAD v4: 9-136676660-G-C
• MyVariant Identifiers: chr9:g.139571112G>C (hg19) ; chr9:g.136676660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676660G>C , CM000671.2:g.136676660G>C	GRCh38
NC_000009.11:g.139571112G>C , CM000671.1:g.139571112G>C	GRCh37
NC_000009.10:g.138690933G>C	NCBI36
NG_008090.1:g.15800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.513C>G MANE Select	ENSP00000360761.2:p.Pro171=
ENST00000371694.7:c.492+301C>G	ENSP00000360759.3:n.492+301C>G
ENST00000371696.6:c.513C>G	ENSP00000360761.2:p.Pro171=
ENST00000472820.1:n.441C>G
ENST00000538402.1:c.513C>G	ENSP00000438919.1:p.Pro171=
NM_001012727.1:c.492+301C>G	NP_001012745.1:n.492+301C>G
NM_006412.3:c.513C>G	NP_006403.2:p.Pro171=
NM_006412.4:c.513C>G MANE Select	NP_006403.2:p.Pro171=
NM_001012727.2:c.492+301C>G	NP_001012745.1:n.492+301C>G