Canonical Allele Identifier: CA041715
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs777342676
ExAC: 18:29111156 C / A
gnomAD v2: 18-29111156-C-A
gnomAD v4: 18-31531193-C-A
MyVariant Identifiers: chr18:g.29111156C>A (hg19) chr18:g.31531193C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531193C>A , CM000680.2:g.31531193C>A GRCh38
NC_000018.9:g.29111156C>A , CM000680.1:g.29111156C>A GRCh37
NC_000018.8:g.27365154C>A NCBI36
NG_007072.3:g.37952C>A , LRG_397:g.37952C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1052C>A
ENST00000683614.1:c.1052C>A
ENST00000261590.13:c.1221C>A MANE Select ENSP00000261590.8:p.Gly407=
ENST00000261590.12:c.1221C>A ENSP00000261590.8:p.Gly407=
NM_001943.3:c.1221C>A , LRG_397t1:c.1221C>A NP_001934.2:p.Gly407=
NM_001943.4:c.1221C>A NP_001934.2:p.Gly407=
XM_024451095.1:c.687C>A XP_024306863.1:p.Gly229=
NM_001943.5:c.1221C>A MANE Select NP_001934.2:p.Gly407=
Search 100 bp 5'
Search 100 bp 3'