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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:
CA340523823
Gene: TACSTD2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.59042113C>T (hg19)
chr1:g.58576441C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.58576441C>T , CM000663.2:g.58576441C>T
GRCh38
NC_000001.10:g.59042113C>T , CM000663.1:g.59042113C>T
GRCh37
NC_000001.9:g.58814701C>T
NCBI36
NG_016237.1:g.6054G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000371225.4:c.716G>A
MANE Select
ENSP00000360269.2:p.Arg239His
ENST00000371225.3:c.716G>A
ENSP00000360269.2:p.Arg239His
NM_002353.2:c.716G>A
NP_002344.2:p.Arg239His
NM_002353.3:c.716G>A
MANE Select
NP_002344.2:p.Arg239His
Search 100 bp 5'
Search 100 bp 3'