Canonical Allele Identifier: CA297703297
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1034757933
gnomAD v4: 18-31547542-T-C
MyVariant Identifiers: chr18:g.29127505T>C (hg19) chr18:g.31547542T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547542T>C , CM000680.2:g.31547542T>C GRCh38
NC_000018.9:g.29127505T>C , CM000680.1:g.29127505T>C GRCh37
NC_000018.8:g.27381503T>C NCBI36
NG_007072.3:g.54301T>C , LRG_397:g.54301T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.*799T>C (DSG2) MANE Select ENSP00000261590.8:n.*799T>C
ENST00000261590.12:c.*799T>C (DSG2) ENSP00000261590.8:n.*799T>C
NM_001943.3:c.*799T>C , LRG_397t1:c.*799T>C (DSG2) NP_001934.2:n.*799T>C
NR_045216.1:n.1346-1636A>G (DSG2-AS1)
NM_001943.4:c.*799T>C (DSG2) NP_001934.2:n.*799T>C
NM_001943.5:c.*799T>C (DSG2) MANE Select NP_001934.2:n.*799T>C
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