Canonical Allele Identifier: CA042292

Gene: DSG2

Linked Data

• ClinVar Variation Id: 422458
• ClinVar RCV Id: RCV002395171 ; RCV002475941
• dbSNP Id: rs769137357
• ExAC: 18:29115349 C / T
• gnomAD v2: 18-29115349-C-T
• gnomAD v3: 18-31535386-C-T
• gnomAD v4: 18-31535386-C-T
• MyVariant Identifiers: chr18:g.29115349C>T (hg19) ; chr18:g.31535386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31535386C>T , CM000680.2:g.31535386C>T	GRCh38
NC_000018.9:g.29115349C>T , CM000680.1:g.29115349C>T	GRCh37
NC_000018.8:g.27369347C>T	NCBI36
NG_007072.3:g.42145C>T , LRG_397:g.42145C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.1397C>T MANE Select	ENSP00000261590.8:p.Thr466Ile
ENST00000261590.12:c.1397C>T	ENSP00000261590.8:p.Thr466Ile
NM_001943.3:c.1397C>T , LRG_397t1:c.1397C>T	NP_001934.2:p.Thr466Ile
NM_001943.4:c.1397C>T	NP_001934.2:p.Thr466Ile
XM_024451095.1:c.863C>T	XP_024306863.1:p.Thr288Ile
NM_001943.5:c.1397C>T MANE Select	NP_001934.2:p.Thr466Ile