Canonical Allele Identifier: CA366342092
Gene: SLC22A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160247262C>A , CM000668.2:g.160247262C>A GRCh38
NC_000006.11:g.160668294C>A , CM000668.1:g.160668294C>A GRCh37
NC_000006.10:g.160588284C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.879G>T MANE Select ENSP00000355920.3:p.Gln293His
ENST00000366952.1:c.816G>T ENSP00000355919.1:p.Gln272His
ENST00000366953.7:c.879G>T ENSP00000355920.3:p.Gln293His
ENST00000491092.1:n.776G>T
NM_003058.3:c.879G>T NP_003049.2:p.Gln293His
NM_003058.4:c.879G>T MANE Select NP_003049.2:p.Gln293His