Canonical Allele Identifier: CA297731937

Gene: DSG2

Linked Data

• ClinVar Variation Id: 918361
• ClinVar RCV Id: RCV001175925
• dbSNP Id: rs942590973
• gnomAD v4: 18-31524560-A-T
• MyVariant Identifiers: chr18:g.29104523A>T (hg19) ; chr18:g.31524560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524560A>T , CM000680.2:g.31524560A>T	GRCh38
NC_000018.9:g.29104523A>T , CM000680.1:g.29104523A>T	GRCh37
NC_000018.8:g.27358521A>T	NCBI36
NG_007072.3:g.31319A>T , LRG_397:g.31319A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.634A>T
ENST00000683614.2:n.634A>T
ENST00000682087.1:c.634A>T
ENST00000683614.1:c.634A>T
ENST00000261590.13:c.803A>T MANE Select	ENSP00000261590.8:p.Asn268Ile
ENST00000261590.12:c.803A>T	ENSP00000261590.8:p.Asn268Ile
NM_001943.3:c.803A>T , LRG_397t1:c.803A>T	NP_001934.2:p.Asn268Ile
NM_001943.4:c.803A>T	NP_001934.2:p.Asn268Ile
XM_024451095.1:c.269A>T	XP_024306863.1:p.Asn90Ile
NM_001943.5:c.803A>T MANE Select	NP_001934.2:p.Asn268Ile