Canonical Allele Identifier: CA402132210
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071601
ClinVar RCV Id: RCV004016095

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521183A>T , CM000680.2:g.31521183A>T GRCh38
NC_000018.9:g.29101146A>T , CM000680.1:g.29101146A>T GRCh37
NC_000018.8:g.27355144A>T NCBI36
NG_007072.3:g.27942A>T , LRG_397:g.27942A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.294A>T
ENST00000682241.2:c.463A>T ENSP00000507600.2:p.Asn155Tyr
ENST00000683614.2:n.294A>T
ENST00000682087.1:c.294A>T
ENST00000682241.1:c.294A>T
ENST00000683614.1:c.294A>T
ENST00000683654.1:c.463A>T ENSP00000506971.1:p.Asn155Tyr
ENST00000684461.1:n.294A>T
ENST00000261590.13:c.463A>T MANE Select ENSP00000261590.8:p.Asn155Tyr
ENST00000261590.12:c.463A>T ENSP00000261590.8:p.Asn155Tyr
ENST00000585206.1:c.463A>T ENSP00000462503.1:p.Asn155Tyr
NM_001943.3:c.463A>T , LRG_397t1:c.463A>T NP_001934.2:p.Asn155Tyr
NM_001943.4:c.463A>T NP_001934.2:p.Asn155Tyr
XM_024451095.1:c.-72A>T XP_024306863.1:n.-72A>T
NM_001943.5:c.463A>T MANE Select NP_001934.2:p.Asn155Tyr