Canonical Allele Identifier: CA503765929
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs794728081
MyVariant Identifiers: chr18:g.29122593T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542630T>C , CM000680.2:g.31542630T>C GRCh38
NC_000018.9:g.29122593T>C , CM000680.1:g.29122593T>C GRCh37
NC_000018.8:g.27376591T>C NCBI36
NG_007072.3:g.49389T>C , LRG_397:g.49389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2112T>C (DSG2) MANE Select ENSP00000261590.8:p.Ile704=
ENST00000261590.12:c.2112T>C (DSG2) ENSP00000261590.8:p.Ile704=
NM_001943.3:c.2112T>C , LRG_397t1:c.2112T>C (DSG2) NP_001934.2:p.Ile704=
NR_045216.1:n.1811-309A>G (DSG2-AS1)
NM_001943.4:c.2112T>C (DSG2) NP_001934.2:p.Ile704=
XM_024451095.1:c.1578T>C (DSG2) XP_024306863.1:p.Ile526=
NM_001943.5:c.2112T>C (DSG2) MANE Select NP_001934.2:p.Ile704=