Canonical Allele Identifier: CA402131971

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29101101G>C (hg19) ; chr18:g.31521138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521138G>C , CM000680.2:g.31521138G>C	GRCh38
NC_000018.9:g.29101101G>C , CM000680.1:g.29101101G>C	GRCh37
NC_000018.8:g.27355099G>C	NCBI36
NG_007072.3:g.27897G>C , LRG_397:g.27897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.249G>C
ENST00000682241.2:c.418G>C	ENSP00000507600.2:p.Glu140Gln
ENST00000683614.2:n.249G>C
ENST00000682087.1:c.249G>C
ENST00000682241.1:c.249G>C
ENST00000683614.1:c.249G>C
ENST00000683654.1:c.418G>C	ENSP00000506971.1:p.Glu140Gln
ENST00000684461.1:n.249G>C
ENST00000261590.13:c.418G>C MANE Select	ENSP00000261590.8:p.Glu140Gln
ENST00000261590.12:c.418G>C	ENSP00000261590.8:p.Glu140Gln
ENST00000585206.1:c.418G>C	ENSP00000462503.1:p.Glu140Gln
NM_001943.3:c.418G>C , LRG_397t1:c.418G>C	NP_001934.2:p.Glu140Gln
NM_001943.4:c.418G>C	NP_001934.2:p.Glu140Gln
XM_024451095.1:c.-117G>C	XP_024306863.1:n.-117G>C
NM_001943.5:c.418G>C MANE Select	NP_001934.2:p.Glu140Gln