Canonical Allele Identifier: CA913188920
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546447_31546448dup , CM000680.2:g.31546447_31546448dup GRCh38
NC_000018.9:g.29126410_29126411dup , CM000680.1:g.29126410_29126411dup GRCh37
NC_000018.8:g.27380408_27380409dup NCBI36
NG_007072.3:g.53206_53207dup , LRG_397:g.53206_53207dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3061_3062dup (DSG2) MANE Select ENSP00000261590.8:p.Ser1021ArgfsTer19
ENST00000261590.12:c.3061_3062dup (DSG2) ENSP00000261590.8:p.Ser1021ArgfsTer19
NM_001943.3:c.3061_3062dup , LRG_397t1:c.3061_3062dup (DSG2) NP_001934.2:p.Ser1021ArgfsTer19
NR_045216.1:n.1346-536_1346-535dup (DSG2-AS1)
NM_001943.4:c.3061_3062dup (DSG2) NP_001934.2:p.Ser1021ArgfsTer19
XM_024451095.1:c.2527_2528dup (DSG2) XP_024306863.1:p.Ser843ArgfsTer19
NM_001943.5:c.3061_3062dup (DSG2) MANE Select NP_001934.2:p.Ser1021ArgfsTer19