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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:
CA917904098
Gene: SLC22A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1562437700
gnomAD v3:
6-160249213-T-TA
gnomAD v4:
6-160249213-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160249214dup , CM000668.2:g.160249214dup
GRCh38
NC_000006.11:g.160670246dup , CM000668.1:g.160670246dup
GRCh37
NC_000006.10:g.160590236dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366953.8:c.842+2dup
MANE Select
ENSP00000355920.3:n.842+2dup
ENST00000366952.1:c.779+2dup
ENSP00000355919.1:n.779+2dup
ENST00000366953.7:c.842+2dup
ENSP00000355920.3:n.842+2dup
ENST00000491092.1:n.739+2dup
NM_003058.3:c.842+2dup
NP_003049.2:n.842+2dup
NM_003058.4:c.842+2dup
MANE Select
NP_003049.2:n.842+2dup
Search 100 bp 5'
Search 100 bp 3'