Canonical Allele Identifier: CA4084546
Gene: SLC22A2 HGNC NCBI
COSMIC:
COSM6354143 (not active)
MyVariant.info:
GRCh38 chr6:g.160249250A>C
GRCh37 chr6:g.160670282A>C
Revel Score:
ENST00000366953 (MANE Select) 0.143
ENST00000366952 0.143
gnomAD v2:
6:160670282 A / C
gnomAD v3:
6:160249250 A / C
gnomAD v4:
chr6-160249250-A-C
Joint Max Group AF 0.93021667 (AMR)
Genomes Max Group AF 0.90479671 (AMR)
Exomes Max Group AF 0.93598681 (AMR)
dbSNP:
316019
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160249250A>C , CM000668.2:g.160249250A>C GRCh38
NC_000006.11:g.160670282A>C , CM000668.1:g.160670282A>C GRCh37
NC_000006.10:g.160590272A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.808T>G MANE Select ENSP00000355920.3:p.Ser270Ala
ENST00000366952.1:c.745T>G ENSP00000355919.1:p.Ser249Ala
ENST00000366953.7:c.808T>G ENSP00000355920.3:p.Ser270Ala
ENST00000491092.1:n.705T>G
NM_003058.3:c.808T>G NP_003049.2:p.Ser270Ala
NM_003058.4:c.808T>G MANE Select NP_003049.2:p.Ser270Ala
Search 100 bp 5'
Search 100 bp 3'