Canonical Allele Identifier: CA1096526375
Gene: SLC22A2 HGNC NCBI

Linked Data

dbSNP Id: rs1783142340
gnomAD v3: 6-160249168-A-G
gnomAD v4: 6-160249168-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160249168A>G , CM000668.2:g.160249168A>G GRCh38
NC_000006.11:g.160670200A>G , CM000668.1:g.160670200A>G GRCh37
NC_000006.10:g.160590190A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366953.8:c.842+48T>C MANE Select ENSP00000355920.3:n.842+48T>C
ENST00000366952.1:c.779+48T>C ENSP00000355919.1:n.779+48T>C
ENST00000366953.7:c.842+48T>C ENSP00000355920.3:n.842+48T>C
ENST00000491092.1:n.739+48T>C
NM_003058.3:c.842+48T>C NP_003049.2:n.842+48T>C
NM_003058.4:c.842+48T>C MANE Select NP_003049.2:n.842+48T>C
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