Canonical Allele Identifier: CA2842782760
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498255dup , CM000680.2:g.31498255dup GRCh38
NC_000018.9:g.29078218dup , CM000680.1:g.29078218dup GRCh37
NC_000018.8:g.27332216dup NCBI36
NG_007072.3:g.5014dup , LRG_397:g.5014dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.4dup ENSP00000507600.2:p.Ala2GlyfsTer18
ENST00000683654.1:c.4dup ENSP00000506971.1:p.Ala2GlyfsTer18
ENST00000261590.13:c.4dup MANE Select ENSP00000261590.8:p.Ala2GlyfsTer18
ENST00000261590.12:c.4dup ENSP00000261590.8:p.Ala2GlyfsTer18
ENST00000585206.1:c.4dup ENSP00000462503.1:p.Ala2GlyfsTer18
NM_001943.3:c.4dup , LRG_397t1:c.4dup NP_001934.2:p.Ala2GlyfsTer18
NM_001943.4:c.4dup NP_001934.2:p.Ala2GlyfsTer18
NM_001943.5:c.4dup MANE Select NP_001934.2:p.Ala2GlyfsTer18