Canonical Allele Identifier: CA5343037
Gene: AGPAT2 HGNC NCBI
ClinVar RCV:
RCV000445386
RCV002467800
RCV003480630
RCV003488594
RCV003912787
ClinVar Variation:
393425
dbSNP:
114782902
gnomAD v2:
9:139571546 T / C
gnomAD v3:
9:136677094 T / C
gnomAD v4:
chr9-136677094-T-C
Joint Max Group AF 0.00564285 (AFR)
Genomes Max Group AF 0.004563 (AFR)
Exomes Max Group AF 0.00656525 (AFR)
MyVariant.info:
GRCh38 chr9:g.136677094T>C
GRCh37 chr9:g.139571546T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136677094T>C , CM000671.2:g.136677094T>C GRCh38
NC_000009.11:g.139571546T>C , CM000671.1:g.139571546T>C GRCh37
NC_000009.10:g.138691367T>C NCBI36
NG_008090.1:g.15366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.359A>G MANE Select ENSP00000360761.2:p.Lys120Arg
ENST00000371694.7:c.359A>G ENSP00000360759.3:p.Lys120Arg
ENST00000371696.6:c.359A>G ENSP00000360761.2:p.Lys120Arg
ENST00000470861.1:n.653A>G
ENST00000472820.1:n.287A>G
ENST00000538402.1:c.359A>G ENSP00000438919.1:p.Lys120Arg
NM_001012727.1:c.359A>G NP_001012745.1:p.Lys120Arg
NM_006412.3:c.359A>G NP_006403.2:p.Lys120Arg
NM_006412.4:c.359A>G MANE Select NP_006403.2:p.Lys120Arg
NM_001012727.2:c.359A>G NP_001012745.1:p.Lys120Arg
Search 100 bp 5'
Search 100 bp 3'