Canonical Allele Identifier: CA5342841
Gene: AGPAT2 HGNC NCBI

Linked Data

dbSNP Id: rs11545228
ExAC: 9:139568320 C / T
gnomAD v2: 9-139568320-C-T
gnomAD v3: 9-136673868-C-T
gnomAD v4: 9-136673868-C-T
MyVariant Identifiers: chr9:g.139568320C>T (hg19) chr9:g.136673868C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136673868C>T , CM000671.2:g.136673868C>T GRCh38
NC_000009.11:g.139568320C>T , CM000671.1:g.139568320C>T GRCh37
NC_000009.10:g.138688141C>T NCBI36
NG_008090.1:g.18592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.721G>A MANE Select ENSP00000360761.2:p.Val241Ile
ENST00000371694.7:c.625G>A ENSP00000360759.3:p.Val209Ile
ENST00000371696.6:c.721G>A ENSP00000360761.2:p.Val241Ile
ENST00000472820.1:n.649G>A
ENST00000538402.1:c.721G>A ENSP00000438919.1:p.Val241Ile
NM_001012727.1:c.625G>A NP_001012745.1:p.Val209Ile
NM_006412.3:c.721G>A NP_006403.2:p.Val241Ile
NM_006412.4:c.721G>A MANE Select NP_006403.2:p.Val241Ile
NM_001012727.2:c.625G>A NP_001012745.1:p.Val209Ile
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