Canonical Allele Identifier: CA988914047

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs2073320173
• gnomAD v3: 18-31547301-T-G
• gnomAD v4: 18-31547301-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31547301T>G , CM000680.2:g.31547301T>G	GRCh38
NC_000018.9:g.29127264T>G , CM000680.1:g.29127264T>G	GRCh37
NC_000018.8:g.27381262T>G	NCBI36
NG_007072.3:g.54060T>G , LRG_397:g.54060T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.*558T>G (DSG2) MANE Select	ENSP00000261590.8:n.*558T>G
ENST00000261590.12:c.*558T>G (DSG2)	ENSP00000261590.8:n.*558T>G
NM_001943.3:c.*558T>G , LRG_397t1:c.*558T>G (DSG2)	NP_001934.2:n.*558T>G
NR_045216.1:n.1346-1395A>C (DSG2-AS1)
NM_001943.4:c.*558T>G (DSG2)	NP_001934.2:n.*558T>G
XM_024451095.1:c.*558T>G (DSG2)	XP_024306863.1:n.*558T>G
NM_001943.5:c.*558T>G (DSG2) MANE Select	NP_001934.2:n.*558T>G