Canonical Allele Identifier: CA402145837
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534680
ClinVar RCV Id: RCV000642317
dbSNP Id: rs1555628211

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546031A>C , CM000680.2:g.31546031A>C GRCh38
NC_000018.9:g.29125994A>C , CM000680.1:g.29125994A>C GRCh37
NC_000018.8:g.27379992A>C NCBI36
NG_007072.3:g.52790A>C , LRG_397:g.52790A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2645A>C (DSG2) MANE Select ENSP00000261590.8:p.Tyr882Ser
ENST00000261590.12:c.2645A>C (DSG2) ENSP00000261590.8:p.Tyr882Ser
NM_001943.3:c.2645A>C , LRG_397t1:c.2645A>C (DSG2) NP_001934.2:p.Tyr882Ser
NR_045216.1:n.1346-125T>G (DSG2-AS1)
NM_001943.4:c.2645A>C (DSG2) NP_001934.2:p.Tyr882Ser
XM_024451095.1:c.2111A>C (DSG2) XP_024306863.1:p.Tyr704Ser
NM_001943.5:c.2645A>C (DSG2) MANE Select NP_001934.2:p.Tyr882Ser