Canonical Allele Identifier: CA402146192
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 629757
ClinVar RCV Id: RCV000774469 RCV002424768 RCV004001403
dbSNP Id: rs1446243136
gnomAD v2: 18-29126045-C-T
MyVariant Identifiers: chr18:g.29126045C>T (hg19) chr18:g.31546082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546082C>T , CM000680.2:g.31546082C>T GRCh38
NC_000018.9:g.29126045C>T , CM000680.1:g.29126045C>T GRCh37
NC_000018.8:g.27380043C>T NCBI36
NG_007072.3:g.52841C>T , LRG_397:g.52841C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2696C>T (DSG2) MANE Select ENSP00000261590.8:p.Ala899Val
ENST00000261590.12:c.2696C>T (DSG2) ENSP00000261590.8:p.Ala899Val
NM_001943.3:c.2696C>T , LRG_397t1:c.2696C>T (DSG2) NP_001934.2:p.Ala899Val
NR_045216.1:n.1346-176G>A (DSG2-AS1)
NM_001943.4:c.2696C>T (DSG2) NP_001934.2:p.Ala899Val
XM_024451095.1:c.2162C>T (DSG2) XP_024306863.1:p.Ala721Val
NM_001943.5:c.2696C>T (DSG2) MANE Select NP_001934.2:p.Ala899Val
Search 100 bp 5'
Search 100 bp 3'