Canonical Allele Identifier: CA402135239
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524563T>G , CM000680.2:g.31524563T>G GRCh38
NC_000018.9:g.29104526T>G , CM000680.1:g.29104526T>G GRCh37
NC_000018.8:g.27358524T>G NCBI36
NG_007072.3:g.31322T>G , LRG_397:g.31322T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.637T>G
ENST00000683614.2:n.637T>G
ENST00000682087.1:c.637T>G
ENST00000683614.1:c.637T>G
ENST00000261590.13:c.806T>G MANE Select ENSP00000261590.8:p.Ile269Arg
ENST00000261590.12:c.806T>G ENSP00000261590.8:p.Ile269Arg
NM_001943.3:c.806T>G , LRG_397t1:c.806T>G NP_001934.2:p.Ile269Arg
NM_001943.4:c.806T>G NP_001934.2:p.Ile269Arg
XM_024451095.1:c.272T>G XP_024306863.1:p.Ile91Arg
NM_001943.5:c.806T>G MANE Select NP_001934.2:p.Ile269Arg