Canonical Allele Identifier: CA402133948

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102174G>C (hg19) ; chr18:g.31522211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522211G>C , CM000680.2:g.31522211G>C	GRCh38
NC_000018.9:g.29102174G>C , CM000680.1:g.29102174G>C	GRCh37
NC_000018.8:g.27356172G>C	NCBI36
NG_007072.3:g.28970G>C , LRG_397:g.28970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.483G>C
ENST00000682241.2:c.652G>C	ENSP00000507600.2:p.Gly218Arg
ENST00000683614.2:n.483G>C
ENST00000682087.1:c.483G>C
ENST00000682241.1:c.483G>C
ENST00000683614.1:c.483G>C
ENST00000683654.1:c.652G>C	ENSP00000506971.1:p.Gly218Arg
ENST00000684461.1:n.1322G>C
ENST00000261590.13:c.652G>C MANE Select	ENSP00000261590.8:p.Gly218Arg
ENST00000261590.12:c.652G>C	ENSP00000261590.8:p.Gly218Arg
ENST00000585206.1:c.652G>C	ENSP00000462503.1:p.Gly218Arg
NM_001943.3:c.652G>C , LRG_397t1:c.652G>C	NP_001934.2:p.Gly218Arg
NM_001943.4:c.652G>C	NP_001934.2:p.Gly218Arg
XM_024451095.1:c.118G>C	XP_024306863.1:p.Gly40Arg
NM_001943.5:c.652G>C MANE Select	NP_001934.2:p.Gly218Arg