Canonical Allele Identifier: CA503598124

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2703806
• ClinVar RCV Id: RCV003518027
• MyVariant Identifiers: chr18:g.29102098G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522135G>C , CM000680.2:g.31522135G>C	GRCh38
NC_000018.9:g.29102098G>C , CM000680.1:g.29102098G>C	GRCh37
NC_000018.8:g.27356096G>C	NCBI36
NG_007072.3:g.28894G>C , LRG_397:g.28894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.407G>C
ENST00000682241.2:c.576G>C	ENSP00000507600.2:p.Leu192=
ENST00000683614.2:n.407G>C
ENST00000682087.1:c.407G>C
ENST00000682241.1:c.407G>C
ENST00000683614.1:c.407G>C
ENST00000683654.1:c.576G>C	ENSP00000506971.1:p.Leu192=
ENST00000684461.1:n.1246G>C
ENST00000261590.13:c.576G>C MANE Select	ENSP00000261590.8:p.Leu192=
ENST00000261590.12:c.576G>C	ENSP00000261590.8:p.Leu192=
ENST00000585206.1:c.576G>C	ENSP00000462503.1:p.Leu192=
NM_001943.3:c.576G>C , LRG_397t1:c.576G>C	NP_001934.2:p.Leu192=
NM_001943.4:c.576G>C	NP_001934.2:p.Leu192=
XM_024451095.1:c.42G>C	XP_024306863.1:p.Leu14=
NM_001943.5:c.576G>C MANE Select	NP_001934.2:p.Leu192=