Canonical Allele Identifier: CA2641407648
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 18-31546350-T-TGAA
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546351_31546353dup , CM000680.2:g.31546351_31546353dup GRCh38
NC_000018.9:g.29126314_29126316dup , CM000680.1:g.29126314_29126316dup GRCh37
NC_000018.8:g.27380312_27380314dup NCBI36
NG_007072.3:g.53110_53112dup , LRG_397:g.53110_53112dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2965_2967dup (DSG2) MANE Select ENSP00000261590.8:p.Glu989_Arg990insGlu
ENST00000261590.12:c.2965_2967dup (DSG2) ENSP00000261590.8:p.Glu989_Arg990insGlu
NM_001943.3:c.2965_2967dup , LRG_397t1:c.2965_2967dup (DSG2) NP_001934.2:p.Glu989_Arg990insGlu
NR_045216.1:n.1346-447_1346-445dup (DSG2-AS1)
NM_001943.4:c.2965_2967dup (DSG2) NP_001934.2:p.Glu989_Arg990insGlu
XM_024451095.1:c.2431_2433dup (DSG2) XP_024306863.1:p.Glu811_Arg812insGlu
NM_001943.5:c.2965_2967dup (DSG2) MANE Select NP_001934.2:p.Glu989_Arg990insGlu
Search 100 bp 5'
Search 100 bp 3'