Canonical Allele Identifier: CA402148819
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 924567
ClinVar RCV Id: RCV001185941 RCV004008567
dbSNP Id: rs2073312753
gnomAD v4: 18-31546567-T-A
MyVariant Identifiers: chr18:g.29126530T>A (hg19) chr18:g.31546567T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546567T>A , CM000680.2:g.31546567T>A GRCh38
NC_000018.9:g.29126530T>A , CM000680.1:g.29126530T>A GRCh37
NC_000018.8:g.27380528T>A NCBI36
NG_007072.3:g.53326T>A , LRG_397:g.53326T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3181T>A (DSG2) MANE Select ENSP00000261590.8:p.Tyr1061Asn
ENST00000261590.12:c.3181T>A (DSG2) ENSP00000261590.8:p.Tyr1061Asn
NM_001943.3:c.3181T>A , LRG_397t1:c.3181T>A (DSG2) NP_001934.2:p.Tyr1061Asn
NR_045216.1:n.1346-661A>T (DSG2-AS1)
NM_001943.4:c.3181T>A (DSG2) NP_001934.2:p.Tyr1061Asn
XM_024451095.1:c.2647T>A (DSG2) XP_024306863.1:p.Tyr883Asn
NM_001943.5:c.3181T>A (DSG2) MANE Select NP_001934.2:p.Tyr1061Asn
Search 100 bp 5'
Search 100 bp 3'