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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:
CA821611430
Gene: SLC22A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1229371888
MyVariant Identifiers:
chr6:g.160668393T>G (hg19)
chr6:g.160247361T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160247361T>G , CM000668.2:g.160247361T>G
GRCh38
NC_000006.11:g.160668393T>G , CM000668.1:g.160668393T>G
GRCh37
NC_000006.10:g.160588383T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366953.8:c.843-63A>C
MANE Select
ENSP00000355920.3:n.843-63A>C
ENST00000366952.1:c.780-63A>C
ENSP00000355919.1:n.780-63A>C
ENST00000366953.7:c.843-63A>C
ENSP00000355920.3:n.843-63A>C
ENST00000491092.1:n.740-63A>C
NM_003058.3:c.843-63A>C
NP_003049.2:n.843-63A>C
NM_003058.4:c.843-63A>C
MANE Select
NP_003049.2:n.843-63A>C
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