Canonical Allele Identifier: CA022077

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2447014
• ClinVar RCV Id: RCV003176282
• dbSNP Id: rs764530260
• ExAC: 18:29101066 C / T
• gnomAD v2: 18-29101066-C-T
• gnomAD v4: 18-31521103-C-T
• MyVariant Identifiers: chr18:g.29101066C>T (hg19) ; chr18:g.31521103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521103C>T , CM000680.2:g.31521103C>T	GRCh38
NC_000018.9:g.29101066C>T , CM000680.1:g.29101066C>T	GRCh37
NC_000018.8:g.27355064C>T	NCBI36
NG_007072.3:g.27862C>T , LRG_397:g.27862C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.214C>T
ENST00000682241.2:c.383C>T	ENSP00000507600.2:p.Thr128Ile
ENST00000683614.2:n.214C>T
ENST00000682087.1:c.214C>T
ENST00000682241.1:c.214C>T
ENST00000683614.1:c.214C>T
ENST00000683654.1:c.383C>T	ENSP00000506971.1:p.Thr128Ile
ENST00000684461.1:n.214C>T
ENST00000261590.13:c.383C>T MANE Select	ENSP00000261590.8:p.Thr128Ile
ENST00000261590.12:c.383C>T	ENSP00000261590.8:p.Thr128Ile
ENST00000585206.1:c.383C>T	ENSP00000462503.1:p.Thr128Ile
NM_001943.3:c.383C>T , LRG_397t1:c.383C>T	NP_001934.2:p.Thr128Ile
NM_001943.4:c.383C>T	NP_001934.2:p.Thr128Ile
XM_024451095.1:c.-152C>T	XP_024306863.1:n.-152C>T
NM_001943.5:c.383C>T MANE Select	NP_001934.2:p.Thr128Ile