Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA402141356

Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1952214

ClinVar RCV Id: RCV002676807

MyVariant Identifiers: chr18:g.29122546G>C (hg19) chr18:g.31542583G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542583G>C , CM000680.2:g.31542583G>C	GRCh38
NC_000018.9:g.29122546G>C , CM000680.1:g.29122546G>C	GRCh37
NC_000018.8:g.27376544G>C	NCBI36
NG_007072.3:g.49342G>C , LRG_397:g.49342G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.2065G>C (DSG2) MANE Select	ENSP00000261590.8:p.Gly689Arg
ENST00000261590.12:c.2065G>C (DSG2)	ENSP00000261590.8:p.Gly689Arg
NM_001943.3:c.2065G>C , LRG_397t1:c.2065G>C (DSG2)	NP_001934.2:p.Gly689Arg
NR_045216.1:n.1811-262C>G (DSG2-AS1)
NM_001943.4:c.2065G>C (DSG2)	NP_001934.2:p.Gly689Arg
XM_024451095.1:c.1531G>C (DSG2)	XP_024306863.1:p.Gly511Arg
NM_001943.5:c.2065G>C (DSG2) MANE Select	NP_001934.2:p.Gly689Arg