Canonical Allele Identifier: CA402141208
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542560T>C , CM000680.2:g.31542560T>C GRCh38
NC_000018.9:g.29122523T>C , CM000680.1:g.29122523T>C GRCh37
NC_000018.8:g.27376521T>C NCBI36
NG_007072.3:g.49319T>C , LRG_397:g.49319T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2042T>C (DSG2) MANE Select ENSP00000261590.8:p.Leu681Pro
ENST00000261590.12:c.2042T>C (DSG2) ENSP00000261590.8:p.Leu681Pro
NM_001943.3:c.2042T>C , LRG_397t1:c.2042T>C (DSG2) NP_001934.2:p.Leu681Pro
NR_045216.1:n.1811-239A>G (DSG2-AS1)
NM_001943.4:c.2042T>C (DSG2) NP_001934.2:p.Leu681Pro
XM_024451095.1:c.1508T>C (DSG2) XP_024306863.1:p.Leu503Pro
NM_001943.5:c.2042T>C (DSG2) MANE Select NP_001934.2:p.Leu681Pro