Canonical Allele Identifier: CA12450343

Gene: SLC22A2

Linked Data

• dbSNP Id: rs2279463
• gnomAD v2: 6-160668389-A-G
• gnomAD v3: 6-160247357-A-G
• gnomAD v4: 6-160247357-A-G
• MyVariant Identifiers: chr6:g.160668389A>G (hg19) ; chr6:g.160247357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160247357A>G , CM000668.2:g.160247357A>G	GRCh38
NC_000006.11:g.160668389A>G , CM000668.1:g.160668389A>G	GRCh37
NC_000006.10:g.160588379A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366953.8:c.843-59T>C MANE Select	ENSP00000355920.3:n.843-59T>C
ENST00000366952.1:c.780-59T>C	ENSP00000355919.1:n.780-59T>C
ENST00000366953.7:c.843-59T>C	ENSP00000355920.3:n.843-59T>C
ENST00000491092.1:n.740-59T>C
NM_003058.3:c.843-59T>C	NP_003049.2:n.843-59T>C
NM_003058.4:c.843-59T>C MANE Select	NP_003049.2:n.843-59T>C