Canonical Allele Identifier: CA591186744

Gene: AGPAT2

Linked Data

• dbSNP Id: rs940883134
• gnomAD v2: 9-139581505-T-TCCCCGGAG
• gnomAD v3: 9-136687053-T-TCCCCGGAG
• gnomAD v4: 9-136687053-T-TCCCCGGAG
• MyVariant Identifiers: chr9:g.139581513_139581514insCCCCGGAG (hg19) ; chr9:g.139581505_139581506insCCCCGGAG (hg19) ; chr9:g.136687061_136687062insCCCCGGAG (hg38) ; chr9:g.136687053_136687054insCCCCGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136687063_136687070dup , CM000671.2:g.136687063_136687070dup	GRCh38
NC_000009.11:g.139581515_139581522dup , CM000671.1:g.139581515_139581522dup	GRCh37
NC_000009.10:g.138701336_138701343dup	NCBI36
NG_008090.1:g.5399_5406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.182+115_182+122dup MANE Select	ENSP00000360761.2:n.182+115_182+122dup
ENST00000371694.7:c.182+115_182+122dup	ENSP00000360759.3:n.182+115_182+122dup
ENST00000371696.6:c.182+115_182+122dup	ENSP00000360761.2:n.182+115_182+122dup
ENST00000470861.1:n.190+115_190+122dup
ENST00000538402.1:c.182+115_182+122dup	ENSP00000438919.1:n.182+115_182+122dup
NM_001012727.1:c.182+115_182+122dup	NP_001012745.1:n.182+115_182+122dup
NM_006412.3:c.182+115_182+122dup	NP_006403.2:n.182+115_182+122dup
NM_006412.4:c.182+115_182+122dup MANE Select	NP_006403.2:n.182+115_182+122dup
NM_001012727.2:c.182+115_182+122dup	NP_001012745.1:n.182+115_182+122dup