Canonical Allele Identifier: CA297741309
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332290
ClinVar RCV Id: RCV001805336 RCV001885275 RCV004009123
dbSNP Id: rs776525113
gnomAD v2: 18-29116201-T-G
gnomAD v3: 18-31536238-T-G
gnomAD v4: 18-31536238-T-G
MyVariant Identifiers: chr18:g.29116201T>G (hg19) chr18:g.31536238T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536238T>G , CM000680.2:g.31536238T>G GRCh38
NC_000018.9:g.29116201T>G , CM000680.1:g.29116201T>G GRCh37
NC_000018.8:g.27370199T>G NCBI36
NG_007072.3:g.42997T>G , LRG_397:g.42997T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1460T>G MANE Select ENSP00000261590.8:p.Ile487Ser
ENST00000261590.12:c.1460T>G ENSP00000261590.8:p.Ile487Ser
NM_001943.3:c.1460T>G , LRG_397t1:c.1460T>G NP_001934.2:p.Ile487Ser
NM_001943.4:c.1460T>G NP_001934.2:p.Ile487Ser
XM_024451095.1:c.926T>G XP_024306863.1:p.Ile309Ser
NM_001943.5:c.1460T>G MANE Select NP_001934.2:p.Ile487Ser
Search 100 bp 5'
Search 100 bp 3'