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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA366342098
Gene: SLC22A2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.160668296G>C (hg19)
chr6:g.160247264G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160247264G>C , CM000668.2:g.160247264G>C
GRCh38
NC_000006.11:g.160668296G>C , CM000668.1:g.160668296G>C
GRCh37
NC_000006.10:g.160588286G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366953.8:c.877C>G
MANE Select
ENSP00000355920.3:p.Gln293Glu
ENST00000366952.1:c.814C>G
ENSP00000355919.1:p.Gln272Glu
ENST00000366953.7:c.877C>G
ENSP00000355920.3:p.Gln293Glu
ENST00000491092.1:n.774C>G
NM_003058.3:c.877C>G
NP_003049.2:p.Gln293Glu
NM_003058.4:c.877C>G
MANE Select
NP_003049.2:p.Gln293Glu
Search 100 bp 5'
Search 100 bp 3'