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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:
CA126246
Gene: TACSTD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16183
ClinVar RCV Id:
RCV000017567
dbSNP Id:
rs80358224
MyVariant Identifiers:
chr1:g.59042210G>A (hg19)
chr1:g.58576538G>A (hg38)
PubMed:
PMID:10192395
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.58576538G>A , CM000663.2:g.58576538G>A
GRCh38
NC_000001.10:g.59042210G>A , CM000663.1:g.59042210G>A
GRCh37
NC_000001.9:g.58814798G>A
NCBI36
NG_016237.1:g.5957C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000371225.4:c.619C>T
MANE Select
ENSP00000360269.2:p.Gln207Ter
ENST00000371225.3:c.619C>T
ENSP00000360269.2:p.Gln207Ter
NM_002353.2:c.619C>T
NP_002344.2:p.Gln207Ter
NM_002353.3:c.619C>T
MANE Select
NP_002344.2:p.Gln207Ter
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