Canonical Allele Identifier: CA044558
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs758912270
ExAC: 18:29121311 CT / C
gnomAD v2: 18-29121311-CT-C
gnomAD v4: 18-31541348-CT-C
MyVariant Identifiers: chr18:g.29121312del (hg19) chr18:g.31541349del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541350del , CM000680.2:g.31541350del GRCh38
NC_000018.9:g.29121313del , CM000680.1:g.29121313del GRCh37
NC_000018.8:g.27375311del NCBI36
NG_007072.3:g.48109del , LRG_397:g.48109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2001+36del MANE Select ENSP00000261590.8:n.2001+36del
ENST00000261590.12:c.2001+36del ENSP00000261590.8:n.2001+36del
NM_001943.3:c.2001+36del , LRG_397t1:c.2001+36del NP_001934.2:n.2001+36del
NM_001943.4:c.2001+36del NP_001934.2:n.2001+36del
XM_024451095.1:c.1467+36del XP_024306863.1:n.1467+36del
NM_001943.5:c.2001+36del MANE Select NP_001934.2:n.2001+36del
Search 100 bp 5'
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