Canonical Allele Identifier: CA048697

Gene: DSG2

Linked Data

• dbSNP Id: rs771890613
• ExAC: 18:29101088 A / C
• gnomAD v2: 18-29101088-A-C
• gnomAD v4: 18-31521125-A-C
• MyVariant Identifiers: chr18:g.29101088A>C (hg19) ; chr18:g.31521125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521125A>C , CM000680.2:g.31521125A>C	GRCh38
NC_000018.9:g.29101088A>C , CM000680.1:g.29101088A>C	GRCh37
NC_000018.8:g.27355086A>C	NCBI36
NG_007072.3:g.27884A>C , LRG_397:g.27884A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.236A>C
ENST00000682241.2:c.405A>C	ENSP00000507600.2:p.Arg135Ser
ENST00000683614.2:n.236A>C
ENST00000682087.1:c.236A>C
ENST00000682241.1:c.236A>C
ENST00000683614.1:c.236A>C
ENST00000683654.1:c.405A>C	ENSP00000506971.1:p.Arg135Ser
ENST00000684461.1:n.236A>C
ENST00000261590.13:c.405A>C MANE Select	ENSP00000261590.8:p.Arg135Ser
ENST00000261590.12:c.405A>C	ENSP00000261590.8:p.Arg135Ser
ENST00000585206.1:c.405A>C	ENSP00000462503.1:p.Arg135Ser
NM_001943.3:c.405A>C , LRG_397t1:c.405A>C	NP_001934.2:p.Arg135Ser
NM_001943.4:c.405A>C	NP_001934.2:p.Arg135Ser
XM_024451095.1:c.-130A>C	XP_024306863.1:n.-130A>C
NM_001943.5:c.405A>C MANE Select	NP_001934.2:p.Arg135Ser