Canonical Allele Identifier: CA10629629

Gene: AGPAT2

Linked Data

• ClinVar Variation Id: 365935
• ClinVar RCV Id: RCV000399921
• dbSNP Id: rs886063723
• gnomAD v2: 9-139581809-T-TGGCCC
• gnomAD v3: 9-136687357-T-TGGCCC
• gnomAD v4: 9-136687357-T-TGGCCC
• MyVariant Identifiers: chr9:g.139581810_139581814dupGGCCC (hg19) ; chr9:g.139581809_139581810insGGCCC (hg19) ; chr9:g.136687358_136687362dupGGCCC (hg38) ; chr9:g.136687357_136687358insGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687366_136687370dup , CM000671.2:g.136687366_136687370dup	GRCh38
NC_000009.11:g.139581818_139581822dup , CM000671.1:g.139581818_139581822dup	GRCh37
NC_000009.10:g.138701639_138701643dup	NCBI36
NG_008090.1:g.5098_5102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.-5_-1dup MANE Select	ENSP00000360761.2:p.Met1GlyfsTer22
ENST00000371694.7:c.-5_-1dup	ENSP00000360759.3:p.Met1GlyfsTer22
ENST00000371696.6:c.-5_-1dup	ENSP00000360761.2:p.Met1GlyfsTer22
ENST00000538402.1:c.-5_-1dup	ENSP00000438919.1:p.Met1GlyfsTer22
NM_001012727.1:c.-5_-1dup	NP_001012745.1:p.Met1GlyfsTer22
NM_006412.3:c.-5_-1dup	NP_006403.2:p.Met1GlyfsTer22
NM_006412.4:c.-5_-1dup MANE Select	NP_006403.2:p.Met1GlyfsTer22
NM_001012727.2:c.-5_-1dup	NP_001012745.1:p.Met1GlyfsTer22