Canonical Allele Identifier: CA2576480575
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542745_31542750del , CM000680.2:g.31542745_31542750del GRCh38
NC_000018.9:g.29122708_29122713del , CM000680.1:g.29122708_29122713del GRCh37
NC_000018.8:g.27376706_27376711del NCBI36
NG_007072.3:g.49504_49509del , LRG_397:g.49504_49509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2227_2232del (DSG2) MANE Select ENSP00000261590.8:p.Glu743_Thr744del
ENST00000261590.12:c.2227_2232del (DSG2) ENSP00000261590.8:p.Glu743_Thr744del
NM_001943.3:c.2227_2232del , LRG_397t1:c.2227_2232del (DSG2) NP_001934.2:p.Glu743_Thr744del
NR_045216.1:n.1810+352_1810+357del (DSG2-AS1)
NM_001943.4:c.2227_2232del (DSG2) NP_001934.2:p.Glu743_Thr744del
XM_024451095.1:c.1693_1698del (DSG2) XP_024306863.1:p.Glu565_Thr566del
NM_001943.5:c.2227_2232del (DSG2) MANE Select NP_001934.2:p.Glu743_Thr744del