Canonical Allele Identifier: CA2293866234
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2073312334

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546533_31546534del , CM000680.2:g.31546533_31546534del GRCh38
NC_000018.9:g.29126496_29126497del , CM000680.1:g.29126496_29126497del GRCh37
NC_000018.8:g.27380494_27380495del NCBI36
NG_007072.3:g.53292_53293del , LRG_397:g.53292_53293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3147_3148del (DSG2) MANE Select ENSP00000261590.8:p.Arg1049SerfsTer17
ENST00000261590.12:c.3147_3148del (DSG2) ENSP00000261590.8:p.Arg1049SerfsTer17
NM_001943.3:c.3147_3148del , LRG_397t1:c.3147_3148del (DSG2) NP_001934.2:p.Arg1049SerfsTer17
NR_045216.1:n.1346-626_1346-625del (DSG2-AS1)
NM_001943.4:c.3147_3148del (DSG2) NP_001934.2:p.Arg1049SerfsTer17
XM_024451095.1:c.2613_2614del (DSG2) XP_024306863.1:p.Arg871SerfsTer17
NM_001943.5:c.3147_3148del (DSG2) MANE Select NP_001934.2:p.Arg1049SerfsTer17