Canonical Allele Identifier: CA151202246
Gene: SLC22A2 HGNC NCBI

Linked Data

dbSNP Id: rs1057484743
gnomAD v4: 6-160249161-T-G
MyVariant Identifiers: chr6:g.160670193T>G (hg19) chr6:g.160249161T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160249161T>G , CM000668.2:g.160249161T>G GRCh38
NC_000006.11:g.160670193T>G , CM000668.1:g.160670193T>G GRCh37
NC_000006.10:g.160590183T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000366953.8:c.842+55A>C MANE Select ENSP00000355920.3:n.842+55A>C
ENST00000366952.1:c.779+55A>C ENSP00000355919.1:n.779+55A>C
ENST00000366953.7:c.842+55A>C ENSP00000355920.3:n.842+55A>C
ENST00000491092.1:n.739+55A>C
NM_003058.3:c.842+55A>C NP_003049.2:n.842+55A>C
NM_003058.4:c.842+55A>C MANE Select NP_003049.2:n.842+55A>C
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