Canonical Allele Identifier: CA10641303

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326381
• ClinVar RCV Id: RCV000386614
• dbSNP Id: rs539965523
• gnomAD v2: 18-28647217-A-T
• gnomAD v3: 18-31067251-A-T
• gnomAD v4: 18-31067251-A-T
• MyVariant Identifiers: chr18:g.28647217A>T (hg19) ; chr18:g.31067251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067251A>T , CM000680.2:g.31067251A>T	GRCh38
NC_000018.9:g.28647217A>T , CM000680.1:g.28647217A>T	GRCh37
NC_000018.8:g.26901215A>T	NCBI36
NG_008208.2:g.40175T>A , LRG_400:g.40175T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*764T>A	ENSP00000507826.1:n.*764T>A
ENST00000251081.8:c.*972T>A	ENSP00000251081.6:n.*972T>A
ENST00000280904.11:c.*764T>A MANE Select	ENSP00000280904.6:n.*764T>A
ENST00000648081.1:c.*764T>A	ENSP00000497441.1:n.*764T>A
ENST00000251081.6:c.*972T>A	ENSP00000251081.6:n.*972T>A
ENST00000280904.10:c.*764T>A	ENSP00000280904.6:n.*764T>A
NM_004949.4:c.*972T>A	NP_004940.1:n.*972T>A
NM_024422.4:c.*764T>A	NP_077740.1:n.*764T>A
XM_005258206.3:c.*764T>A	XP_005258263.1:n.*764T>A
XM_005258206.4:c.*764T>A	XP_005258263.1:n.*764T>A
NM_004949.5:c.*972T>A	NP_004940.1:n.*972T>A
NM_024422.6:c.*764T>A MANE Select	NP_077740.1:n.*764T>A