Canonical Allele Identifier: CA2580095601
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522123_31522124delinsAA , CM000680.2:g.31522123_31522124delinsAA GRCh38
NC_000018.9:g.29102086_29102087delinsAA , CM000680.1:g.29102086_29102087delinsAA GRCh37
NC_000018.8:g.27356084_27356085delinsAA NCBI36
NG_007072.3:g.28882_28883delinsAA , LRG_397:g.28882_28883delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.395_396delinsAA
ENST00000682241.2:c.564_565delinsAA ENSP00000507600.2:p.Pro189Thr
ENST00000683614.2:n.395_396delinsAA
ENST00000682087.1:c.395_396delinsAA
ENST00000682241.1:c.395_396delinsAA
ENST00000683614.1:c.395_396delinsAA
ENST00000683654.1:c.564_565delinsAA ENSP00000506971.1:p.Pro189Thr
ENST00000684461.1:n.1234_1235delinsAA
ENST00000261590.13:c.564_565delinsAA MANE Select ENSP00000261590.8:p.Pro189Thr
ENST00000261590.12:c.564_565delinsAA ENSP00000261590.8:p.Pro189Thr
ENST00000585206.1:c.564_565delinsAA ENSP00000462503.1:p.Pro189Thr
NM_001943.3:c.564_565delinsAA , LRG_397t1:c.564_565delinsAA NP_001934.2:p.Pro189Thr
NM_001943.4:c.564_565delinsAA NP_001934.2:p.Pro189Thr
XM_024451095.1:c.30_31delinsAA XP_024306863.1:p.Pro11Thr
NM_001943.5:c.564_565delinsAA MANE Select NP_001934.2:p.Pro189Thr