Canonical Allele Identifier: CA402139884
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479437
ClinVar RCV Id: RCV001976775
dbSNP Id: rs893262083
gnomAD v4: 18-31541301-C-T
MyVariant Identifiers: chr18:g.29121264C>T (hg19) chr18:g.31541301C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541301C>T , CM000680.2:g.31541301C>T GRCh38
NC_000018.9:g.29121264C>T , CM000680.1:g.29121264C>T GRCh37
NC_000018.8:g.27375262C>T NCBI36
NG_007072.3:g.48060C>T , LRG_397:g.48060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1988C>T MANE Select ENSP00000261590.8:p.Pro663Leu
ENST00000261590.12:c.1988C>T ENSP00000261590.8:p.Pro663Leu
NM_001943.3:c.1988C>T , LRG_397t1:c.1988C>T NP_001934.2:p.Pro663Leu
NM_001943.4:c.1988C>T NP_001934.2:p.Pro663Leu
XM_024451095.1:c.1454C>T XP_024306863.1:p.Pro485Leu
NM_001943.5:c.1988C>T MANE Select NP_001934.2:p.Pro663Leu
Search 100 bp 5'
Search 100 bp 3'