Canonical Allele Identifier: CA5343181
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs758336307
ExAC: 9:139581758 C / G
gnomAD v2: 9-139581758-C-G
gnomAD v4: 9-136687306-C-G
MyVariant Identifiers: chr9:g.139581758C>G (hg19) chr9:g.139581758_139581767delinsGCAGCAGCAG (hg19) chr9:g.136687306C>G (hg38) chr9:g.136687306_136687315delinsGCAGCAGCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136687306C>G , CM000671.2:g.136687306C>G GRCh38
NC_000009.11:g.139581758C>G , CM000671.1:g.139581758C>G GRCh37
NC_000009.10:g.138701579C>G NCBI36
NG_008090.1:g.5154G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.52G>C MANE Select ENSP00000360761.2:p.Val18Leu
ENST00000371694.7:c.52G>C ENSP00000360759.3:p.Val18Leu
ENST00000371696.6:c.52G>C ENSP00000360761.2:p.Val18Leu
ENST00000470861.1:n.60G>C
ENST00000538402.1:c.52G>C ENSP00000438919.1:p.Val18Leu
NM_001012727.1:c.52G>C NP_001012745.1:p.Val18Leu
NM_006412.3:c.52G>C NP_006403.2:p.Val18Leu
NM_006412.4:c.52G>C MANE Select NP_006403.2:p.Val18Leu
NM_001012727.2:c.52G>C NP_001012745.1:p.Val18Leu
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