Canonical Allele Identifier: CA048042
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 513777
dbSNP Id: rs544981484

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546581T>C , CM000680.2:g.31546581T>C GRCh38
NC_000018.9:g.29126544T>C , CM000680.1:g.29126544T>C GRCh37
NC_000018.8:g.27380542T>C NCBI36
NG_007072.3:g.53340T>C , LRG_397:g.53340T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3195T>C (DSG2) MANE Select ENSP00000261590.8:p.Thr1065=
ENST00000261590.12:c.3195T>C ENSP00000261590.8:p.Thr1065=
NM_001943.3:c.3195T>C , LRG_397t1:c.3195T>C (DSG2) NP_001934.2:p.Thr1065=
NR_045216.1:n.1346-675A>G (DSG2-AS1)
NM_001943.4:c.3195T>C (DSG2) NP_001934.2:p.Thr1065=
XM_024451095.1:c.2661T>C (DSG2) XP_024306863.1:p.Thr887=
NM_001943.5:c.3195T>C (DSG2) MANE Select NP_001934.2:p.Thr1065=