Canonical Allele Identifier: CA2293855445
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521110C= , CM000680.2:g.31521110C= GRCh38
NC_000018.9:g.29101073C= , CM000680.1:g.29101073C= GRCh37
NC_000018.8:g.27355071C= NCBI36
NG_007072.3:g.27869C= , LRG_397:g.27869C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.221C=
ENST00000682241.2:c.390C= ENSP00000507600.2:p.Tyr130=
ENST00000683614.2:n.221C=
ENST00000682087.1:c.221C=
ENST00000682241.1:c.221C=
ENST00000683614.1:c.221C=
ENST00000683654.1:c.390C= ENSP00000506971.1:p.Tyr130=
ENST00000684461.1:n.221C=
ENST00000261590.13:c.390C= MANE Select ENSP00000261590.8:p.Tyr130=
ENST00000261590.12:c.390C= ENSP00000261590.8:p.Tyr130=
ENST00000585206.1:c.390C= ENSP00000462503.1:p.Tyr130=
NM_001943.3:c.390C= , LRG_397t1:c.390C= NP_001934.2:p.Tyr130=
NM_001943.4:c.390C= NP_001934.2:p.Tyr130=
XM_024451095.1:c.-145C= XP_024306863.1:n.-145C=
NM_001943.5:c.390C= MANE Select NP_001934.2:p.Tyr130=