Canonical Allele Identifier: CA5342903

Gene: AGPAT2

Linked Data

• dbSNP Id: rs748693822
• ExAC: 9:139569222 G / T
• gnomAD v2: 9-139569222-G-T
• gnomAD v4: 9-136674770-G-T
• MyVariant Identifiers: chr9:g.139569222G>T (hg19) ; chr9:g.136674770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136674770G>T , CM000671.2:g.136674770G>T	GRCh38
NC_000009.11:g.139569222G>T , CM000671.1:g.139569222G>T	GRCh37
NC_000009.10:g.138689043G>T	NCBI36
NG_008090.1:g.17690C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.626C>A MANE Select	ENSP00000360761.2:p.Ser209Tyr
ENST00000371694.7:c.530C>A	ENSP00000360759.3:p.Ser177Tyr
ENST00000371696.6:c.626C>A	ENSP00000360761.2:p.Ser209Tyr
ENST00000472820.1:n.554C>A
ENST00000538402.1:c.626C>A	ENSP00000438919.1:p.Ser209Tyr
NM_001012727.1:c.530C>A	NP_001012745.1:p.Ser177Tyr
NM_006412.3:c.626C>A	NP_006403.2:p.Ser209Tyr
NM_006412.4:c.626C>A MANE Select	NP_006403.2:p.Ser209Tyr
NM_001012727.2:c.530C>A	NP_001012745.1:p.Ser177Tyr