×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA402141509
Gene: DSG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629155
ClinVar RCV Id:
RCV000773846
RCV001239198
RCV002469284
RCV003411711
dbSNP Id:
rs1191142951
gnomAD v2:
18-29116244-G-T
gnomAD v3:
18-31536281-G-T
gnomAD v4:
18-31536281-G-T
MyVariant Identifiers:
chr18:g.29116244G>T (hg19)
chr18:g.31536281G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31536281G>T , CM000680.2:g.31536281G>T
GRCh38
NC_000018.9:g.29116244G>T , CM000680.1:g.29116244G>T
GRCh37
NC_000018.8:g.27370242G>T
NCBI36
NG_007072.3:g.43040G>T , LRG_397:g.43040G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000261590.13:c.1503G>T
MANE Select
ENSP00000261590.8:p.Glu501Asp
ENST00000261590.12:c.1503G>T
ENSP00000261590.8:p.Glu501Asp
NM_001943.3:c.1503G>T , LRG_397t1:c.1503G>T
NP_001934.2:p.Glu501Asp
NM_001943.4:c.1503G>T
NP_001934.2:p.Glu501Asp
XM_024451095.1:c.969G>T
XP_024306863.1:p.Glu323Asp
NM_001943.5:c.1503G>T
MANE Select
NP_001934.2:p.Glu501Asp
Search 100 bp 5'
Search 100 bp 3'