Canonical Allele Identifier: CA5343149

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 365934
• ClinVar RCV Id: RCV000291539 ; RCV000885393
• dbSNP Id: rs373540283
• ExAC: 9:139581622 C / T
• gnomAD v2: 9-139581622-C-T
• gnomAD v3: 9-136687170-C-T
• gnomAD v4: 9-136687170-C-T
• MyVariant Identifiers: chr9:g.139581622C>T (hg19) ; chr9:g.136687170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687170C>T , CM000671.2:g.136687170C>T	GRCh38
NC_000009.11:g.139581622C>T , CM000671.1:g.139581622C>T	GRCh37
NC_000009.10:g.138701443C>T	NCBI36
NG_008090.1:g.5290G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371696.7:c.182+6G>A MANE Select	ENSP00000360761.2:n.182+6G>A
ENST00000371694.7:c.182+6G>A	ENSP00000360759.3:n.182+6G>A
ENST00000371696.6:c.182+6G>A	ENSP00000360761.2:n.182+6G>A
ENST00000470861.1:n.190+6G>A
ENST00000538402.1:c.182+6G>A	ENSP00000438919.1:n.182+6G>A
NM_001012727.1:c.182+6G>A	NP_001012745.1:n.182+6G>A
NM_006412.3:c.182+6G>A	NP_006403.2:n.182+6G>A
NM_006412.4:c.182+6G>A MANE Select	NP_006403.2:n.182+6G>A
NM_001012727.2:c.182+6G>A	NP_001012745.1:n.182+6G>A