Canonical Allele Identifier: CA043730
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31538898del
GRCh37 chr18:g.29118861del
gnomAD v2:
18:29118860 AG / A
gnomAD v3:
18:31538897 AG / A
gnomAD v4:
chr18-31538897-AG-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV003516643
ClinVar Variation:
2739198
dbSNP:
761852941
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31538900del , CM000680.2:g.31538900del GRCh38
NC_000018.9:g.29118863del , CM000680.1:g.29118863del GRCh37
NC_000018.8:g.27372861del NCBI36
NG_007072.3:g.45659del , LRG_397:g.45659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1801del MANE Select ENSP00000261590.8:p.Glu601LysfsTer18
ENST00000261590.12:c.1801del ENSP00000261590.8:p.Glu601LysfsTer18
NM_001943.3:c.1801del , LRG_397t1:c.1801del NP_001934.2:p.Glu601LysfsTer18
NM_001943.4:c.1801del NP_001934.2:p.Glu601LysfsTer18
XM_024451095.1:c.1267del XP_024306863.1:p.Glu423LysfsTer18
NM_001943.5:c.1801del MANE Select NP_001934.2:p.Glu601LysfsTer18
Search 100 bp 5'
Search 100 bp 3'