Canonical Allele Identifier: CA4084503
Gene: SLC22A2 HGNC NCBI

Linked Data

dbSNP Id: rs761361892
ExAC: 6:160668291 A / C
gnomAD v2: 6-160668291-A-C
gnomAD v3: 6-160247259-A-C
gnomAD v4: 6-160247259-A-C
MyVariant Identifiers: chr6:g.160668291A>C (hg19) chr6:g.160247259A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160247259A>C , CM000668.2:g.160247259A>C GRCh38
NC_000006.11:g.160668291A>C , CM000668.1:g.160668291A>C GRCh37
NC_000006.10:g.160588281A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366953.8:c.882T>G MANE Select ENSP00000355920.3:p.Asn294Lys
ENST00000366952.1:c.819T>G ENSP00000355919.1:p.Asn273Lys
ENST00000366953.7:c.882T>G ENSP00000355920.3:p.Asn294Lys
ENST00000491092.1:n.779T>G
NM_003058.3:c.882T>G NP_003049.2:p.Asn294Lys
NM_003058.4:c.882T>G MANE Select NP_003049.2:p.Asn294Lys
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