Canonical Allele Identifier: CA503598169
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29122542A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542579A>T , CM000680.2:g.31542579A>T GRCh38
NC_000018.9:g.29122542A>T , CM000680.1:g.29122542A>T GRCh37
NC_000018.8:g.27376540A>T NCBI36
NG_007072.3:g.49338A>T , LRG_397:g.49338A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2061A>T (DSG2) MANE Select ENSP00000261590.8:p.Val687=
ENST00000261590.12:c.2061A>T (DSG2) ENSP00000261590.8:p.Val687=
NM_001943.3:c.2061A>T , LRG_397t1:c.2061A>T (DSG2) NP_001934.2:p.Val687=
NR_045216.1:n.1811-258T>A (DSG2-AS1)
NM_001943.4:c.2061A>T (DSG2) NP_001934.2:p.Val687=
XM_024451095.1:c.1527A>T (DSG2) XP_024306863.1:p.Val509=
NM_001943.5:c.2061A>T (DSG2) MANE Select NP_001934.2:p.Val687=