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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:
CA363280333
Gene: DCDC2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.24291202C>A (hg19)
chr6:g.24290974C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24290974C>A , CM000668.2:g.24290974C>A
GRCh38
NC_000006.11:g.24291202C>A , CM000668.1:g.24291202C>A
GRCh37
NC_000006.10:g.24399181C>A
NCBI36
NG_012829.1:g.72079G>T
NG_012829.2:g.97319G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378454.8:c.662G>T
MANE Select
ENSP00000367715.3:p.Ser221Ile
ENST00000378454.7:c.662G>T
ENSP00000367715.3:p.Ser221Ile
NM_001195610.1:c.662G>T
NP_001182539.1:p.Ser221Ile
NM_016356.4:c.662G>T
NP_057440.2:p.Ser221Ile
NM_016356.5:c.662G>T
MANE Select
NP_057440.2:p.Ser221Ile
NM_001195610.2:c.662G>T
NP_001182539.1:p.Ser221Ile
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