Canonical Allele Identifier: CA366342111
Gene: SLC22A2 HGNC NCBI

Linked Data

gnomAD v4: 6-160247270-T-G
MyVariant Identifiers: chr6:g.160668302T>G (hg19) chr6:g.160247270T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000366953.8:c.871A>C MANE Select ENSP00000355920.3:p.Ile291Leu
ENST00000366952.1:c.808A>C ENSP00000355919.1:p.Ile270Leu
ENST00000366953.7:c.871A>C ENSP00000355920.3:p.Ile291Leu
ENST00000491092.1:n.768A>C
NM_003058.3:c.871A>C NP_003049.2:p.Ile291Leu
NM_003058.4:c.871A>C MANE Select NP_003049.2:p.Ile291Leu
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