Canonical Allele Identifier: CA988925766
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs2073229277
gnomAD v3: 18-31536232-TC-T
gnomAD v4: 18-31536232-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536234del , CM000680.2:g.31536234del GRCh38
NC_000018.9:g.29116197del , CM000680.1:g.29116197del GRCh37
NC_000018.8:g.27370195del NCBI36
NG_007072.3:g.42993del , LRG_397:g.42993del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1456del MANE Select ENSP00000261590.8:p.Ile487SerfsTer13
ENST00000261590.12:c.1456del ENSP00000261590.8:p.Ile487SerfsTer13
NM_001943.3:c.1456del , LRG_397t1:c.1456del NP_001934.2:p.Ile487SerfsTer13
NM_001943.4:c.1456del NP_001934.2:p.Ile487SerfsTer13
XM_024451095.1:c.922del XP_024306863.1:p.Ile309SerfsTer13
NM_001943.5:c.1456del MANE Select NP_001934.2:p.Ile487SerfsTer13
Search 100 bp 5'
Search 100 bp 3'