Canonical Allele Identifier: CA021387
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199788
ClinVar RCV Id: RCV000181184 RCV001351475
dbSNP Id: rs794728078
gnomAD v2: 18-29116204-A-G
gnomAD v3: 18-31536241-A-G
gnomAD v4: 18-31536241-A-G
MyVariant Identifiers: chr18:g.29116204A>G (hg19) chr18:g.31536241A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536241A>G , CM000680.2:g.31536241A>G GRCh38
NC_000018.9:g.29116204A>G , CM000680.1:g.29116204A>G GRCh37
NC_000018.8:g.27370202A>G NCBI36
NG_007072.3:g.43000A>G , LRG_397:g.43000A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1463A>G MANE Select ENSP00000261590.8:p.Asn488Ser
ENST00000261590.12:c.1463A>G ENSP00000261590.8:p.Asn488Ser
NM_001943.3:c.1463A>G , LRG_397t1:c.1463A>G NP_001934.2:p.Asn488Ser
NM_001943.4:c.1463A>G NP_001934.2:p.Asn488Ser
XM_024451095.1:c.929A>G XP_024306863.1:p.Asn310Ser
NM_001943.5:c.1463A>G MANE Select NP_001934.2:p.Asn488Ser
Search 100 bp 5'
Search 100 bp 3'