Canonical Allele Identifier: CA2641407264
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542681_31542682del , CM000680.2:g.31542681_31542682del GRCh38
NC_000018.9:g.29122644_29122645del , CM000680.1:g.29122644_29122645del GRCh37
NC_000018.8:g.27376642_27376643del NCBI36
NG_007072.3:g.49440_49441del , LRG_397:g.49440_49441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2163_2164del (DSG2) MANE Select ENSP00000261590.8:p.His721GlnfsTer7
ENST00000261590.12:c.2163_2164del (DSG2) ENSP00000261590.8:p.His721GlnfsTer7
NM_001943.3:c.2163_2164del , LRG_397t1:c.2163_2164del (DSG2) NP_001934.2:p.His721GlnfsTer7
NR_045216.1:n.1811-358_1811-357del (DSG2-AS1)
NM_001943.4:c.2163_2164del (DSG2) NP_001934.2:p.His721GlnfsTer7
XM_024451095.1:c.1629_1630del (DSG2) XP_024306863.1:p.His543GlnfsTer7
NM_001943.5:c.2163_2164del (DSG2) MANE Select NP_001934.2:p.His721GlnfsTer7