Canonical Allele Identifier: CA4084505
Gene: SLC22A2 HGNC NCBI

Linked Data

dbSNP Id: rs749944636
ExAC: 6:160668302 T / C
gnomAD v2: 6-160668302-T-C
gnomAD v4: 6-160247270-T-C
MyVariant Identifiers: chr6:g.160668302T>C (hg19) chr6:g.160247270T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160247270T>C , CM000668.2:g.160247270T>C GRCh38
NC_000006.11:g.160668302T>C , CM000668.1:g.160668302T>C GRCh37
NC_000006.10:g.160588292T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.871A>G MANE Select ENSP00000355920.3:p.Ile291Val
ENST00000366952.1:c.808A>G ENSP00000355919.1:p.Ile270Val
ENST00000366953.7:c.871A>G ENSP00000355920.3:p.Ile291Val
ENST00000491092.1:n.768A>G
NM_003058.3:c.871A>G NP_003049.2:p.Ile291Val
NM_003058.4:c.871A>G MANE Select NP_003049.2:p.Ile291Val
Search 100 bp 5'
Search 100 bp 3'