Canonical Allele Identifier: CA778427514
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1057523171
gnomAD v3: 18-31498236-C-T
gnomAD v4: 18-31498236-C-T
MyVariant Identifiers: chr18:g.29078199C>T (hg19) chr18:g.31498236C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498236C>T , CM000680.2:g.31498236C>T GRCh38
NC_000018.9:g.29078199C>T , CM000680.1:g.29078199C>T GRCh37
NC_000018.8:g.27332197C>T NCBI36
NG_007072.3:g.4995C>T , LRG_397:g.4995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.-16C>T ENSP00000507600.2:n.-16C>T
ENST00000261590.13:c.-16C>T MANE Select ENSP00000261590.8:n.-16C>T
ENST00000261590.12:c.-16C>T ENSP00000261590.8:n.-16C>T
ENST00000585206.1:c.-16C>T ENSP00000462503.1:n.-16C>T
NM_001943.3:c.-16C>T , LRG_397t1:c.-16C>T NP_001934.2:n.-16C>T
NM_001943.4:c.-16C>T NP_001934.2:n.-16C>T
NM_001943.5:c.-16C>T MANE Select NP_001934.2:n.-16C>T
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