Canonical Allele Identifier: CA021908
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 163222
ClinVar RCV Id: RCV000150546 RCV001188344 RCV001850043 RCV003998193
dbSNP Id: rs727502990
gnomAD v3: 18-31546258-CCA-C
gnomAD v4: 18-31546258-CCA-C
MyVariant Identifiers: chr18:g.29126224_29126225del (hg19) chr18:g.29126222_29126223del (hg19) chr18:g.31546261_31546262del (hg38) chr18:g.31546259_31546260del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546261_31546262del , CM000680.2:g.31546261_31546262del GRCh38
NC_000018.9:g.29126224_29126225del , CM000680.1:g.29126224_29126225del GRCh37
NC_000018.8:g.27380222_27380223del NCBI36
NG_007072.3:g.53020_53021del , LRG_397:g.53020_53021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2875_2876del (DSG2) MANE Select ENSP00000261590.8:p.Gln959GlufsTer22
ENST00000261590.12:c.2875_2876del (DSG2) ENSP00000261590.8:p.Gln959GlufsTer22
NM_001943.3:c.2875_2876del , LRG_397t1:c.2875_2876del (DSG2) NP_001934.2:p.Gln959GlufsTer22
NR_045216.1:n.1346-354_1346-353del (DSG2-AS1)
NM_001943.4:c.2875_2876del (DSG2) NP_001934.2:p.Gln959GlufsTer22
XM_024451095.1:c.2341_2342del (DSG2) XP_024306863.1:p.Gln781GlufsTer22
NM_001943.5:c.2875_2876del (DSG2) MANE Select NP_001934.2:p.Gln959GlufsTer22
Search 100 bp 5'
Search 100 bp 3'