Canonical Allele Identifier: CA402142577
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926748
ClinVar RCV Id: RCV001189555 RCV002282475 RCV003631193
dbSNP Id: rs772240008
gnomAD v4: 18-31542733-A-C
MyVariant Identifiers: chr18:g.29122696A>C (hg19) chr18:g.31542733A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542733A>C , CM000680.2:g.31542733A>C GRCh38
NC_000018.9:g.29122696A>C , CM000680.1:g.29122696A>C GRCh37
NC_000018.8:g.27376694A>C NCBI36
NG_007072.3:g.49492A>C , LRG_397:g.49492A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2215A>C (DSG2) MANE Select ENSP00000261590.8:p.Ile739Leu
ENST00000261590.12:c.2215A>C (DSG2) ENSP00000261590.8:p.Ile739Leu
NM_001943.3:c.2215A>C , LRG_397t1:c.2215A>C (DSG2) NP_001934.2:p.Ile739Leu
NR_045216.1:n.1810+369T>G (DSG2-AS1)
NM_001943.4:c.2215A>C (DSG2) NP_001934.2:p.Ile739Leu
XM_024451095.1:c.1681A>C (DSG2) XP_024306863.1:p.Ile561Leu
NM_001943.5:c.2215A>C (DSG2) MANE Select NP_001934.2:p.Ile739Leu
Search 100 bp 5'
Search 100 bp 3'