Canonical Allele Identifier: CA402131803

Gene: DSG2

Linked Data

• ClinVar Variation Id: 942861
• ClinVar RCV Id: RCV001212936
• dbSNP Id: rs2073125035
• MyVariant Identifiers: chr18:g.29101068G>T (hg19) ; chr18:g.31521105G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521105G>T , CM000680.2:g.31521105G>T	GRCh38
NC_000018.9:g.29101068G>T , CM000680.1:g.29101068G>T	GRCh37
NC_000018.8:g.27355066G>T	NCBI36
NG_007072.3:g.27864G>T , LRG_397:g.27864G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.216G>T
ENST00000682241.2:c.385G>T	ENSP00000507600.2:p.Gly129Cys
ENST00000683614.2:n.216G>T
ENST00000682087.1:c.216G>T
ENST00000682241.1:c.216G>T
ENST00000683614.1:c.216G>T
ENST00000683654.1:c.385G>T	ENSP00000506971.1:p.Gly129Cys
ENST00000684461.1:n.216G>T
ENST00000261590.13:c.385G>T MANE Select	ENSP00000261590.8:p.Gly129Cys
ENST00000261590.12:c.385G>T	ENSP00000261590.8:p.Gly129Cys
ENST00000585206.1:c.385G>T	ENSP00000462503.1:p.Gly129Cys
NM_001943.3:c.385G>T , LRG_397t1:c.385G>T	NP_001934.2:p.Gly129Cys
NM_001943.4:c.385G>T	NP_001934.2:p.Gly129Cys
XM_024451095.1:c.-150G>T	XP_024306863.1:n.-150G>T
NM_001943.5:c.385G>T MANE Select	NP_001934.2:p.Gly129Cys