Canonical Allele Identifier: CA047675
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 925892
ClinVar RCV Id: RCV001188068 RCV003517314 RCV004010259
dbSNP Id: rs762717195
ExAC: 18:29126345 C / T
gnomAD v2: 18-29126345-C-T
gnomAD v3: 18-31546382-C-T
gnomAD v4: 18-31546382-C-T
COSMIC: COSM5755193
MyVariant Identifiers: chr18:g.29126345C>T (hg19) chr18:g.31546382C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546382C>T , CM000680.2:g.31546382C>T GRCh38
NC_000018.9:g.29126345C>T , CM000680.1:g.29126345C>T GRCh37
NC_000018.8:g.27380343C>T NCBI36
NG_007072.3:g.53141C>T , LRG_397:g.53141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2996C>T (DSG2) MANE Select ENSP00000261590.8:p.Ser999Leu
ENST00000261590.12:c.2996C>T (DSG2) ENSP00000261590.8:p.Ser999Leu
NM_001943.3:c.2996C>T , LRG_397t1:c.2996C>T (DSG2) NP_001934.2:p.Ser999Leu
NR_045216.1:n.1346-476G>A (DSG2-AS1)
NM_001943.4:c.2996C>T (DSG2) NP_001934.2:p.Ser999Leu
XM_024451095.1:c.2462C>T (DSG2) XP_024306863.1:p.Ser821Leu
NM_001943.5:c.2996C>T (DSG2) MANE Select NP_001934.2:p.Ser999Leu
Search 100 bp 5'
Search 100 bp 3'