Canonical Allele Identifier: CA4084399
Gene: SLC22A2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160243653G>T
GRCh37 chr6:g.160664685G>T
Revel Score:
ENST00000366953 (MANE Select) 0.514
gnomAD v2:
6:160664685 G / T
gnomAD v3:
6:160243653 G / T
gnomAD v4:
chr6-160243653-G-T
Joint Max Group AF 0.00043016 (MID)
Genomes Max Group AF 0.00056029 (AFR)
Exomes Max Group AF 0.00045291 (MID)
dbSNP:
8177516
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.1198C>A MANE Select ENSP00000355920.3:p.Arg400Ser
ENST00000366953.7:c.1198C>A ENSP00000355920.3:p.Arg400Ser
ENST00000486916.5:n.237C>A
ENST00000491092.1:n.1095C>A
NM_003058.3:c.1198C>A NP_003049.2:p.Arg400Ser
NM_003058.4:c.1198C>A MANE Select NP_003049.2:p.Arg400Ser
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