Canonical Allele Identifier: CA402141720
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383059
ClinVar RCV Id: RCV001924494 RCV004010757
dbSNP Id: rs2144353139
gnomAD v4: 18-31542622-G-A
MyVariant Identifiers: chr18:g.29122585G>A (hg19) chr18:g.31542622G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542622G>A , CM000680.2:g.31542622G>A GRCh38
NC_000018.9:g.29122585G>A , CM000680.1:g.29122585G>A GRCh37
NC_000018.8:g.27376583G>A NCBI36
NG_007072.3:g.49381G>A , LRG_397:g.49381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2104G>A (DSG2) MANE Select ENSP00000261590.8:p.Ala702Thr
ENST00000261590.12:c.2104G>A (DSG2) ENSP00000261590.8:p.Ala702Thr
NM_001943.3:c.2104G>A , LRG_397t1:c.2104G>A (DSG2) NP_001934.2:p.Ala702Thr
NR_045216.1:n.1811-301C>T (DSG2-AS1)
NM_001943.4:c.2104G>A (DSG2) NP_001934.2:p.Ala702Thr
XM_024451095.1:c.1570G>A (DSG2) XP_024306863.1:p.Ala524Thr
NM_001943.5:c.2104G>A (DSG2) MANE Select NP_001934.2:p.Ala702Thr
Search 100 bp 5'
Search 100 bp 3'