Canonical Allele Identifier: CA402142443
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073103
ClinVar RCV Id: RCV004015117
MyVariant Identifiers: chr18:g.29122674G>C (hg19) chr18:g.31542711G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542711G>C , CM000680.2:g.31542711G>C GRCh38
NC_000018.9:g.29122674G>C , CM000680.1:g.29122674G>C GRCh37
NC_000018.8:g.27376672G>C NCBI36
NG_007072.3:g.49470G>C , LRG_397:g.49470G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2193G>C (DSG2) MANE Select ENSP00000261590.8:p.Gln731His
ENST00000261590.12:c.2193G>C (DSG2) ENSP00000261590.8:p.Gln731His
NM_001943.3:c.2193G>C , LRG_397t1:c.2193G>C (DSG2) NP_001934.2:p.Gln731His
NR_045216.1:n.1811-390C>G (DSG2-AS1)
NM_001943.4:c.2193G>C (DSG2) NP_001934.2:p.Gln731His
XM_024451095.1:c.1659G>C (DSG2) XP_024306863.1:p.Gln553His
NM_001943.5:c.2193G>C (DSG2) MANE Select NP_001934.2:p.Gln731His
Search 100 bp 5'
Search 100 bp 3'