Canonical Allele Identifier: CA402131830

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1341608
• ClinVar RCV Id: RCV001837104 ; RCV004017871
• dbSNP Id: rs369489095
• MyVariant Identifiers: chr18:g.29101073C>A (hg19) ; chr18:g.31521110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521110C>A , CM000680.2:g.31521110C>A	GRCh38
NC_000018.9:g.29101073C>A , CM000680.1:g.29101073C>A	GRCh37
NC_000018.8:g.27355071C>A	NCBI36
NG_007072.3:g.27869C>A , LRG_397:g.27869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.221C>A
ENST00000682241.2:c.390C>A	ENSP00000507600.2:p.Tyr130Ter
ENST00000683614.2:n.221C>A
ENST00000682087.1:c.221C>A
ENST00000682241.1:c.221C>A
ENST00000683614.1:c.221C>A
ENST00000683654.1:c.390C>A	ENSP00000506971.1:p.Tyr130Ter
ENST00000684461.1:n.221C>A
ENST00000261590.13:c.390C>A MANE Select	ENSP00000261590.8:p.Tyr130Ter
ENST00000261590.12:c.390C>A	ENSP00000261590.8:p.Tyr130Ter
ENST00000585206.1:c.390C>A	ENSP00000462503.1:p.Tyr130Ter
NM_001943.3:c.390C>A , LRG_397t1:c.390C>A	NP_001934.2:p.Tyr130Ter
NM_001943.4:c.390C>A	NP_001934.2:p.Tyr130Ter
XM_024451095.1:c.-145C>A	XP_024306863.1:n.-145C>A
NM_001943.5:c.390C>A MANE Select	NP_001934.2:p.Tyr130Ter