Canonical Allele Identifier: CA16620683
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422516
ClinVar RCV Id: RCV000757181 RCV001241693 RCV003532143 RCV004003377
dbSNP Id: rs1064795829
gnomAD v2: 18-29126582-G-C
COSMIC: COSM2809506
MyVariant Identifiers: chr18:g.29126582G>C (hg19) chr18:g.31546619G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546619G>C , CM000680.2:g.31546619G>C GRCh38
NC_000018.9:g.29126582G>C , CM000680.1:g.29126582G>C GRCh37
NC_000018.8:g.27380580G>C NCBI36
NG_007072.3:g.53378G>C , LRG_397:g.53378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3233G>C (DSG2) MANE Select ENSP00000261590.8:p.Gly1078Ala
ENST00000261590.12:c.3233G>C (DSG2) ENSP00000261590.8:p.Gly1078Ala
NM_001943.3:c.3233G>C , LRG_397t1:c.3233G>C (DSG2) NP_001934.2:p.Gly1078Ala
NR_045216.1:n.1346-713C>G (DSG2-AS1)
NM_001943.4:c.3233G>C (DSG2) NP_001934.2:p.Gly1078Ala
XM_024451095.1:c.2699G>C (DSG2) XP_024306863.1:p.Gly900Ala
NM_001943.5:c.3233G>C (DSG2) MANE Select NP_001934.2:p.Gly1078Ala
Search 100 bp 5'
Search 100 bp 3'