Canonical Allele Identifier: CA402146564

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs1286077034
• gnomAD v2: 18-29126095-C-T
• gnomAD v4: 18-31546132-C-T
• MyVariant Identifiers: chr18:g.29126095C>T (hg19) ; chr18:g.31546132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546132C>T , CM000680.2:g.31546132C>T	GRCh38
NC_000018.9:g.29126095C>T , CM000680.1:g.29126095C>T	GRCh37
NC_000018.8:g.27380093C>T	NCBI36
NG_007072.3:g.52891C>T , LRG_397:g.52891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2746C>T (DSG2) MANE Select	ENSP00000261590.8:p.Gln916Ter
ENST00000261590.12:c.2746C>T (DSG2)	ENSP00000261590.8:p.Gln916Ter
NM_001943.3:c.2746C>T , LRG_397t1:c.2746C>T (DSG2)	NP_001934.2:p.Gln916Ter
NR_045216.1:n.1346-226G>A (DSG2-AS1)
NM_001943.4:c.2746C>T (DSG2)	NP_001934.2:p.Gln916Ter
XM_024451095.1:c.2212C>T (DSG2)	XP_024306863.1:p.Gln738Ter
NM_001943.5:c.2746C>T (DSG2) MANE Select	NP_001934.2:p.Gln916Ter