Canonical Allele Identifier: CA629149346
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1289086219
gnomAD v2: 18-29127225-G-C
gnomAD v3: 18-31547262-G-C
gnomAD v4: 18-31547262-G-C
MyVariant Identifiers: chr18:g.29127225G>C (hg19) chr18:g.31547262G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31547262G>C , CM000680.2:g.31547262G>C GRCh38
NC_000018.9:g.29127225G>C , CM000680.1:g.29127225G>C GRCh37
NC_000018.8:g.27381223G>C NCBI36
NG_007072.3:g.54021G>C , LRG_397:g.54021G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.*519G>C (DSG2) MANE Select ENSP00000261590.8:n.*519G>C
ENST00000261590.12:c.*519G>C (DSG2) ENSP00000261590.8:n.*519G>C
NM_001943.3:c.*519G>C , LRG_397t1:c.*519G>C (DSG2) NP_001934.2:n.*519G>C
NR_045216.1:n.1346-1356C>G (DSG2-AS1)
NM_001943.4:c.*519G>C (DSG2) NP_001934.2:n.*519G>C
XM_024451095.1:c.*519G>C (DSG2) XP_024306863.1:n.*519G>C
NM_001943.5:c.*519G>C (DSG2) MANE Select NP_001934.2:n.*519G>C
Search 100 bp 5'
Search 100 bp 3'