Canonical Allele Identifier: CA045502
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1646009
ClinVar RCV Id: RCV002136270
dbSNP Id: rs367606402
ExAC: 18:29122833 G / T
gnomAD v2: 18-29122833-G-T
gnomAD v3: 18-31542870-G-T
gnomAD v4: 18-31542870-G-T
MyVariant Identifiers: chr18:g.29122833G>T (hg19) chr18:g.31542870G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542870G>T , CM000680.2:g.31542870G>T GRCh38
NC_000018.9:g.29122833G>T , CM000680.1:g.29122833G>T GRCh37
NC_000018.8:g.27376831G>T NCBI36
NG_007072.3:g.49629G>T , LRG_397:g.49629G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2334+18G>T (DSG2) MANE Select ENSP00000261590.8:n.2334+18G>T
ENST00000261590.12:c.2334+18G>T (DSG2) ENSP00000261590.8:n.2334+18G>T
NM_001943.3:c.2334+18G>T , LRG_397t1:c.2334+18G>T (DSG2) NP_001934.2:n.2334+18G>T
NR_045216.1:n.1810+232C>A (DSG2-AS1)
NM_001943.4:c.2334+18G>T (DSG2) NP_001934.2:n.2334+18G>T
XM_024451095.1:c.1800+18G>T (DSG2) XP_024306863.1:n.1800+18G>T
NM_001943.5:c.2334+18G>T (DSG2) MANE Select NP_001934.2:n.2334+18G>T
Search 100 bp 5'
Search 100 bp 3'