Canonical Allele Identifier: CA503599237
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29104668T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524705T>A , CM000680.2:g.31524705T>A GRCh38
NC_000018.9:g.29104668T>A , CM000680.1:g.29104668T>A GRCh37
NC_000018.8:g.27358666T>A NCBI36
NG_007072.3:g.31464T>A , LRG_397:g.31464T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.662T>A
ENST00000683614.2:n.662T>A
ENST00000682087.1:c.662T>A
ENST00000683614.1:c.662T>A
ENST00000261590.13:c.831T>A MANE Select ENSP00000261590.8:p.Leu277=
ENST00000261590.12:c.831T>A ENSP00000261590.8:p.Leu277=
NM_001943.3:c.831T>A , LRG_397t1:c.831T>A NP_001934.2:p.Leu277=
NM_001943.4:c.831T>A NP_001934.2:p.Leu277=
XM_024451095.1:c.297T>A XP_024306863.1:p.Leu99=
NM_001943.5:c.831T>A MANE Select NP_001934.2:p.Leu277=