Canonical Allele Identifier: CA5342859
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 365921
ClinVar RCV Id: RCV000390445
dbSNP Id: rs199964729
ExAC: 9:139568384 G / C
gnomAD v2: 9-139568384-G-C
gnomAD v3: 9-136673932-G-C
gnomAD v4: 9-136673932-G-C
MyVariant Identifiers: chr9:g.139568384G>C (hg19) chr9:g.136673932G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673932G>C , CM000671.2:g.136673932G>C GRCh38
NC_000009.11:g.139568384G>C , CM000671.1:g.139568384G>C GRCh37
NC_000009.10:g.138688205G>C NCBI36
NG_008090.1:g.18528C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371696.7:c.662-5C>G MANE Select ENSP00000360761.2:n.662-5C>G
ENST00000371694.7:c.566-5C>G ENSP00000360759.3:n.566-5C>G
ENST00000371696.6:c.662-5C>G ENSP00000360761.2:n.662-5C>G
ENST00000472820.1:n.590-5C>G
ENST00000538402.1:c.662-5C>G ENSP00000438919.1:n.662-5C>G
NM_001012727.1:c.566-5C>G NP_001012745.1:n.566-5C>G
NM_006412.3:c.662-5C>G NP_006403.2:n.662-5C>G
NM_006412.4:c.662-5C>G MANE Select NP_006403.2:n.662-5C>G
NM_001012727.2:c.566-5C>G NP_001012745.1:n.566-5C>G
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