Canonical Allele Identifier: CA2681069843
Gene: SLC22A2 HGNC NCBI

Linked Data

gnomAD v4: 6-160249104-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160249104G>A , CM000668.2:g.160249104G>A GRCh38
NC_000006.11:g.160670136G>A , CM000668.1:g.160670136G>A GRCh37
NC_000006.10:g.160590126G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366953.8:c.842+112C>T MANE Select ENSP00000355920.3:n.842+112C>T
ENST00000366952.1:c.779+112C>T ENSP00000355919.1:n.779+112C>T
ENST00000366953.7:c.842+112C>T ENSP00000355920.3:n.842+112C>T
ENST00000491092.1:n.739+112C>T
NM_003058.3:c.842+112C>T NP_003049.2:n.842+112C>T
NM_003058.4:c.842+112C>T MANE Select NP_003049.2:n.842+112C>T
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