Canonical Allele Identifier: CA10647452
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 326462
ClinVar RCV Id: RCV000400069
dbSNP Id: rs886053707
gnomAD v2: 18-29078059-G-A
gnomAD v3: 18-31498096-G-A
gnomAD v4: 18-31498096-G-A
MyVariant Identifiers: chr18:g.29078059G>A (hg19) chr18:g.31498096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498096G>A , CM000680.2:g.31498096G>A GRCh38
NC_000018.9:g.29078059G>A , CM000680.1:g.29078059G>A GRCh37
NC_000018.8:g.27332057G>A NCBI36
NG_007072.3:g.4855G>A , LRG_397:g.4855G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.12:c.-156G>A ENSP00000261590.8:n.-156G>A
NM_001943.3:c.-156G>A , LRG_397t1:c.-156G>A NP_001934.2:n.-156G>A
NM_001943.4:c.-156G>A NP_001934.2:n.-156G>A
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