Canonical Allele Identifier: CA044479
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 920691
ClinVar RCV Id: RCV001179573 RCV001875943 RCV004006578
dbSNP Id: rs771623047
ExAC: 18:29121272 G / C
gnomAD v2: 18-29121272-G-C
gnomAD v3: 18-31541309-G-C
gnomAD v4: 18-31541309-G-C
MyVariant Identifiers: chr18:g.29121272G>C (hg19) chr18:g.31541309G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541309G>C , CM000680.2:g.31541309G>C GRCh38
NC_000018.9:g.29121272G>C , CM000680.1:g.29121272G>C GRCh37
NC_000018.8:g.27375270G>C NCBI36
NG_007072.3:g.48068G>C , LRG_397:g.48068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1996G>C MANE Select ENSP00000261590.8:p.Asp666His
ENST00000261590.12:c.1996G>C ENSP00000261590.8:p.Asp666His
NM_001943.3:c.1996G>C , LRG_397t1:c.1996G>C NP_001934.2:p.Asp666His
NM_001943.4:c.1996G>C NP_001934.2:p.Asp666His
XM_024451095.1:c.1462G>C XP_024306863.1:p.Asp488His
NM_001943.5:c.1996G>C MANE Select NP_001934.2:p.Asp666His
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