Canonical Allele Identifier: CA021547
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31538872_31538873del , CM000680.2:g.31538872_31538873del GRCh38
NC_000018.9:g.29118835_29118836del , CM000680.1:g.29118835_29118836del GRCh37
NC_000018.8:g.27372833_27372834del NCBI36
NG_007072.3:g.45631_45632del , LRG_397:g.45631_45632del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1773_1774del MANE Select ENSP00000261590.8:p.Cys591Ter
ENST00000261590.12:c.1773_1774del ENSP00000261590.8:p.Cys591Ter
NM_001943.3:c.1773_1774del , LRG_397t1:c.1773_1774del NP_001934.2:p.Cys591Ter
NM_001943.4:c.1773_1774del NP_001934.2:p.Cys591Ter
XM_024451095.1:c.1239_1240del XP_024306863.1:p.Cys413Ter
NM_001943.5:c.1773_1774del MANE Select NP_001934.2:p.Cys591Ter