Canonical Allele Identifier: CA3857073
Gene: GSTA2 HGNC NCBI
COSMIC:
COSM4004076 (not active)
MyVariant.info:
GRCh38 chr6:g.52752940G>A
GRCh37 chr6:g.52617738G>A
Revel Score:
ENST00000493422 (MANE Select) 0.115
gnomAD v2:
6:52617738 G / A
gnomAD v3:
6:52752940 G / A
gnomAD v4:
chr6-52752940-G-A
Joint Max Group AF 0.12541631 (SAS)
Genomes Max Group AF 0.12266295 (SAS)
Exomes Max Group AF 0.12515431 (SAS)
dbSNP:
2234951
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52752940G>A , CM000668.2:g.52752940G>A GRCh38
NC_000006.11:g.52617738G>A , CM000668.1:g.52617738G>A GRCh37
NC_000006.10:g.52725697G>A NCBI36
NG_029430.1:g.15624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000493422.3:c.328C>T MANE Select ENSP00000420168.1:p.Pro110Ser
ENST00000493422.2:c.328C>T ENSP00000420168.1:p.Pro110Ser
NM_000846.4:c.328C>T NP_000837.3:p.Pro110Ser
XM_011514532.1:c.328C>T XP_011512834.1:p.Pro110Ser
XM_011514532.3:c.328C>T XP_011512834.1:p.Pro110Ser
NM_000846.5:c.328C>T MANE Select NP_000837.3:p.Pro110Ser
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