Canonical Allele Identifier: CA041846
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144601
ClinVar RCV Id: RCV003063017
dbSNP Id: rs141175168
ExAC: 18:29111233 G / A
gnomAD v2: 18-29111233-G-A
gnomAD v4: 18-31531270-G-A
MyVariant Identifiers: chr18:g.29111233G>A (hg19) chr18:g.31531270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531270G>A , CM000680.2:g.31531270G>A GRCh38
NC_000018.9:g.29111233G>A , CM000680.1:g.29111233G>A GRCh37
NC_000018.8:g.27365231G>A NCBI36
NG_007072.3:g.38029G>A , LRG_397:g.38029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1129G>A
ENST00000683614.1:c.1129G>A
ENST00000261590.13:c.1280+18G>A MANE Select ENSP00000261590.8:n.1280+18G>A
ENST00000261590.12:c.1280+18G>A ENSP00000261590.8:n.1280+18G>A
NM_001943.3:c.1280+18G>A , LRG_397t1:c.1280+18G>A NP_001934.2:n.1280+18G>A
NM_001943.4:c.1280+18G>A NP_001934.2:n.1280+18G>A
XM_024451095.1:c.746+18G>A XP_024306863.1:n.746+18G>A
NM_001943.5:c.1280+18G>A MANE Select NP_001934.2:n.1280+18G>A
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