Canonical Allele Identifier: CA3856959
Gene: GSTA2 HGNC NCBI
COSMIC:
COSM150106 (not active)
MyVariant.info:
GRCh38 chr6:g.52750617T>G
GRCh37 chr6:g.52615415T>G
Revel Score:
ENST00000493422 (MANE Select) 0.015
gnomAD v2:
6:52615415 T / G
gnomAD v3:
6:52750617 T / G
gnomAD v4:
chr6-52750617-T-G
Joint Max Group AF 0.62625354 (AFR)
Genomes Max Group AF 0.61055045 (AFR)
Exomes Max Group AF 0.6413152 (AFR)
dbSNP:
6577
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52750617T>G , CM000668.2:g.52750617T>G GRCh38
NC_000006.11:g.52615415T>G , CM000668.1:g.52615415T>G GRCh37
NC_000006.10:g.52723374T>G NCBI36
NG_029430.1:g.17947A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000493422.3:c.629A>C MANE Select ENSP00000420168.1:p.Glu210Ala
ENST00000493422.2:c.629A>C ENSP00000420168.1:p.Glu210Ala
NM_000846.4:c.629A>C NP_000837.3:p.Glu210Ala
XM_011514532.1:c.629A>C XP_011512834.1:p.Glu210Ala
XM_011514532.3:c.629A>C XP_011512834.1:p.Glu210Ala
NM_000846.5:c.629A>C MANE Select NP_000837.3:p.Glu210Ala
Search 100 bp 5'
Search 100 bp 3'