Canonical Allele Identifier: CA8928335
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284866
ClinVar RCV Id: RCV001700594 RCV003487000 RCV003631211
dbSNP Id: rs77324780
ExAC: 18:29101215 C / CT
gnomAD v2: 18-29101215-C-CT
gnomAD v3: 18-31521252-C-CT
gnomAD v4: 18-31521252-C-CT
MyVariant Identifiers: chr18:g.29101219_29101220insT (hg19) chr18:g.29101218_29101219insT (hg19) chr18:g.29101217_29101218insT (hg19) chr18:g.29101215_29101216insT (hg19) chr18:g.31521254_31521255insT (hg38) chr18:g.31521252_31521253insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521267dup , CM000680.2:g.31521267dup GRCh38
NC_000018.9:g.29101230dup , CM000680.1:g.29101230dup GRCh37
NC_000018.8:g.27355228dup NCBI36
NG_007072.3:g.28026dup , LRG_397:g.28026dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.354+24dup
ENST00000682241.2:c.523+24dup ENSP00000507600.2:n.523+24dup
ENST00000683614.2:n.354+24dup
ENST00000682087.1:c.354+24dup
ENST00000682241.1:c.354+24dup
ENST00000683614.1:c.354+24dup
ENST00000683654.1:c.523+24dup ENSP00000506971.1:n.523+24dup
ENST00000684461.1:n.378dup
ENST00000261590.13:c.523+24dup MANE Select ENSP00000261590.8:n.523+24dup
ENST00000261590.12:c.523+24dup ENSP00000261590.8:n.523+24dup
ENST00000585206.1:c.523+24dup ENSP00000462503.1:n.523+24dup
NM_001943.3:c.523+24dup , LRG_397t1:c.523+24dup NP_001934.2:n.523+24dup
NM_001943.4:c.523+24dup NP_001934.2:n.523+24dup
XM_024451095.1:c.-12+24dup XP_024306863.1:n.-12+24dup
NM_001943.5:c.523+24dup MANE Select NP_001934.2:n.523+24dup
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