Canonical Allele Identifier: CA2825002683
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
ClinVar Allele:
3393219
ClinVar RCV:
RCV004545949
ClinVar Variation:
3234096
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542818_31542822del , CM000680.2:g.31542818_31542822del GRCh38
NC_000018.9:g.29122781_29122785del , CM000680.1:g.29122781_29122785del GRCh37
NC_000018.8:g.27376779_27376783del NCBI36
NG_007072.3:g.49577_49581del , LRG_397:g.49577_49581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2300_2304del (DSG2) MANE Select ENSP00000261590.8:p.Leu767ArgfsTer10
ENST00000261590.12:c.2300_2304del (DSG2) ENSP00000261590.8:p.Leu767ArgfsTer10
NM_001943.3:c.2300_2304del , LRG_397t1:c.2300_2304del (DSG2) NP_001934.2:p.Leu767ArgfsTer10
NR_045216.1:n.1810+282_1810+286del (DSG2-AS1)
NM_001943.4:c.2300_2304del (DSG2) NP_001934.2:p.Leu767ArgfsTer10
XM_024451095.1:c.1766_1770del (DSG2) XP_024306863.1:p.Leu589ArgfsTer10
NM_001943.5:c.2300_2304del (DSG2) MANE Select NP_001934.2:p.Leu767ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'