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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:
CA2681069973
Gene: SLC22A2
HGNC
NCBI
Linked Data
gnomAD v4:
6-160249213-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160249214del , CM000668.2:g.160249214del
GRCh38
NC_000006.11:g.160670246del , CM000668.1:g.160670246del
GRCh37
NC_000006.10:g.160590236del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366953.8:c.842+2del
MANE Select
ENSP00000355920.3:n.842+2del
ENST00000366952.1:c.779+2del
ENSP00000355919.1:n.779+2del
ENST00000366953.7:c.842+2del
ENSP00000355920.3:n.842+2del
ENST00000491092.1:n.739+2del
NM_003058.3:c.842+2del
NP_003049.2:n.842+2del
NM_003058.4:c.842+2del
MANE Select
NP_003049.2:n.842+2del
Search 100 bp 5'
Search 100 bp 3'