Canonical Allele Identifier: CA1130035543

Gene: AGPAT2

Linked Data

• dbSNP Id: rs1846096053
• gnomAD v3: 9-136676815-A-AGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTG
• gnomAD v4: 9-136676815-A-AGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136676823_136676865dup , CM000671.2:g.136676823_136676865dup	GRCh38
NC_000009.11:g.139571275_139571317dup , CM000671.1:g.139571275_139571317dup	GRCh37
NC_000009.10:g.138691096_138691138dup	NCBI36
NG_008090.1:g.15602_15644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371696.7:c.492+103_493-136dup MANE Select	ENSP00000360761.2:n.492+103_493-136dup
ENST00000371694.7:c.492+103_492+145dup	ENSP00000360759.3:n.492+103_492+145dup
ENST00000371696.6:c.492+103_493-136dup	ENSP00000360761.2:n.492+103_493-136dup
ENST00000472820.1:n.420+103_421-136dup
ENST00000538402.1:c.492+103_493-136dup	ENSP00000438919.1:n.492+103_493-136dup
NM_001012727.1:c.492+103_492+145dup	NP_001012745.1:n.492+103_492+145dup
NM_006412.3:c.492+103_493-136dup	NP_006403.2:n.492+103_493-136dup
NM_006412.4:c.492+103_493-136dup MANE Select	NP_006403.2:n.492+103_493-136dup
NM_001012727.2:c.492+103_492+145dup	NP_001012745.1:n.492+103_492+145dup