Canonical Allele Identifier: CA366342086
Gene: SLC22A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160247260T>A , CM000668.2:g.160247260T>A GRCh38
NC_000006.11:g.160668292T>A , CM000668.1:g.160668292T>A GRCh37
NC_000006.10:g.160588282T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366953.8:c.881A>T MANE Select ENSP00000355920.3:p.Asn294Ile
ENST00000366952.1:c.818A>T ENSP00000355919.1:p.Asn273Ile
ENST00000366953.7:c.881A>T ENSP00000355920.3:p.Asn294Ile
ENST00000491092.1:n.778A>T
NM_003058.3:c.881A>T NP_003049.2:p.Asn294Ile
NM_003058.4:c.881A>T MANE Select NP_003049.2:p.Asn294Ile