Canonical Allele Identifier: CA278000
Gene: AGPAT2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.136677047C>T
GRCh37 chr9:g.139571499C>T
Revel Score:
ENST00000371694 0.877
ENST00000371696 (MANE Select) 0.877
ENST00000538402 0.877
gnomAD v2:
9:139571499 C / T
gnomAD v3:
9:136677047 C / T
gnomAD v4:
chr9-136677047-C-T
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000193026
ClinVar Variation:
210104
dbSNP:
797045222
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136677047C>T , CM000671.2:g.136677047C>T GRCh38
NC_000009.11:g.139571499C>T , CM000671.1:g.139571499C>T GRCh37
NC_000009.10:g.138691320C>T NCBI36
NG_008090.1:g.15413G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.406G>A MANE Select ENSP00000360761.2:p.Gly136Arg
ENST00000371694.7:c.406G>A ENSP00000360759.3:p.Gly136Arg
ENST00000371696.6:c.406G>A ENSP00000360761.2:p.Gly136Arg
ENST00000470861.1:n.700G>A
ENST00000472820.1:n.334G>A
ENST00000538402.1:c.406G>A ENSP00000438919.1:p.Gly136Arg
NM_001012727.1:c.406G>A NP_001012745.1:p.Gly136Arg
NM_006412.3:c.406G>A NP_006403.2:p.Gly136Arg
NM_006412.4:c.406G>A MANE Select NP_006403.2:p.Gly136Arg
NM_001012727.2:c.406G>A NP_001012745.1:p.Gly136Arg
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