Canonical Allele Identifier: CA503766617

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 2111195
• ClinVar RCV Id: RCV003045881
• COSMIC: COSM372428
• MyVariant Identifiers: chr18:g.29126337G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546374G>T , CM000680.2:g.31546374G>T	GRCh38
NC_000018.9:g.29126337G>T , CM000680.1:g.29126337G>T	GRCh37
NC_000018.8:g.27380335G>T	NCBI36
NG_007072.3:g.53133G>T , LRG_397:g.53133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2988G>T (DSG2) MANE Select	ENSP00000261590.8:p.Gly996=
ENST00000261590.12:c.2988G>T (DSG2)	ENSP00000261590.8:p.Gly996=
NM_001943.3:c.2988G>T , LRG_397t1:c.2988G>T (DSG2)	NP_001934.2:p.Gly996=
NR_045216.1:n.1346-468C>A (DSG2-AS1)
NM_001943.4:c.2988G>T (DSG2)	NP_001934.2:p.Gly996=
XM_024451095.1:c.2454G>T (DSG2)	XP_024306863.1:p.Gly818=
NM_001943.5:c.2988G>T (DSG2) MANE Select	NP_001934.2:p.Gly996=