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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:
CA402141438
Gene: DSG2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr18:g.29116229T>G (hg19)
chr18:g.31536266T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31536266T>G , CM000680.2:g.31536266T>G
GRCh38
NC_000018.9:g.29116229T>G , CM000680.1:g.29116229T>G
GRCh37
NC_000018.8:g.27370227T>G
NCBI36
NG_007072.3:g.43025T>G , LRG_397:g.43025T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000261590.13:c.1488T>G
MANE Select
ENSP00000261590.8:p.Cys496Trp
ENST00000261590.12:c.1488T>G
ENSP00000261590.8:p.Cys496Trp
NM_001943.3:c.1488T>G , LRG_397t1:c.1488T>G
NP_001934.2:p.Cys496Trp
NM_001943.4:c.1488T>G
NP_001934.2:p.Cys496Trp
XM_024451095.1:c.954T>G
XP_024306863.1:p.Cys318Trp
NM_001943.5:c.1488T>G
MANE Select
NP_001934.2:p.Cys496Trp
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