Canonical Allele Identifier: CA4084398
Gene: SLC22A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160243653G>A
GRCh37 chr6:g.160664685G>A
Revel Score:
ENST00000366953 (MANE Select) 0.395
gnomAD v2:
6:160664685 G / A
gnomAD v3:
6:160243653 G / A
gnomAD v4:
chr6-160243653-G-A
Joint Max Group AF 0.01396407 (AFR)
Genomes Max Group AF 0.01366187 (AFR)
Exomes Max Group AF 0.01368362 (AFR)
dbSNP:
8177516
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160243653G>A , CM000668.2:g.160243653G>A GRCh38
NC_000006.11:g.160664685G>A , CM000668.1:g.160664685G>A GRCh37
NC_000006.10:g.160584675G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.1198C>T MANE Select ENSP00000355920.3:p.Arg400Cys
ENST00000366953.7:c.1198C>T ENSP00000355920.3:p.Arg400Cys
ENST00000486916.5:n.237C>T
ENST00000491092.1:n.1095C>T
NM_003058.3:c.1198C>T NP_003049.2:p.Arg400Cys
NM_003058.4:c.1198C>T MANE Select NP_003049.2:p.Arg400Cys
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