Canonical Allele Identifier: CA402134119

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102204G>T (hg19) ; chr18:g.31522241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522241G>T , CM000680.2:g.31522241G>T	GRCh38
NC_000018.9:g.29102204G>T , CM000680.1:g.29102204G>T	GRCh37
NC_000018.8:g.27356202G>T	NCBI36
NG_007072.3:g.29000G>T , LRG_397:g.29000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.513G>T
ENST00000682241.2:c.682G>T	ENSP00000507600.2:p.Asp228Tyr
ENST00000683614.2:n.513G>T
ENST00000682087.1:c.513G>T
ENST00000682241.1:c.513G>T
ENST00000683614.1:c.513G>T
ENST00000683654.1:c.682G>T	ENSP00000506971.1:p.Asp228Tyr
ENST00000684461.1:n.1352G>T
ENST00000261590.13:c.682G>T MANE Select	ENSP00000261590.8:p.Asp228Tyr
ENST00000261590.12:c.682G>T	ENSP00000261590.8:p.Asp228Tyr
ENST00000585206.1:c.682G>T	ENSP00000462503.1:p.Asp228Tyr
NM_001943.3:c.682G>T , LRG_397t1:c.682G>T	NP_001934.2:p.Asp228Tyr
NM_001943.4:c.682G>T	NP_001934.2:p.Asp228Tyr
XM_024451095.1:c.148G>T	XP_024306863.1:p.Asp50Tyr
NM_001943.5:c.682G>T MANE Select	NP_001934.2:p.Asp228Tyr