Canonical Allele Identifier: CA038922

Gene: DSC2

Linked Data

• ClinVar Variation Id: 430543
• ClinVar RCV Id: RCV000494438 ; RCV000806197 ; RCV001188962 ; RCV004003489 ; RCV004023318
• dbSNP Id: rs202058544
• ExAC: 18:28669431 C / T
• gnomAD v2: 18-28669431-C-T
• gnomAD v3: 18-31089468-C-T
• gnomAD v4: 18-31089468-C-T
• MyVariant Identifiers: chr18:g.28669431C>T (hg19) ; chr18:g.31089468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089468C>T , CM000680.2:g.31089468C>T	GRCh38
NC_000018.9:g.28669431C>T , CM000680.1:g.28669431C>T	GRCh37
NC_000018.8:g.26923429C>T	NCBI36
NG_008208.2:g.17958G>A , LRG_400:g.17958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.172G>A	ENSP00000507826.1:p.Val58Ile
ENST00000251081.8:c.601G>A	ENSP00000251081.6:p.Val201Ile
ENST00000280904.11:c.601G>A MANE Select	ENSP00000280904.6:p.Val201Ile
ENST00000648081.1:c.172G>A	ENSP00000497441.1:p.Val58Ile
ENST00000251081.6:c.601G>A	ENSP00000251081.6:p.Val201Ile
ENST00000280904.10:c.601G>A	ENSP00000280904.6:p.Val201Ile
NM_004949.4:c.601G>A	NP_004940.1:p.Val201Ile
NM_024422.4:c.601G>A	NP_077740.1:p.Val201Ile
XM_005258206.3:c.172G>A	XP_005258263.1:p.Val58Ile
XM_005258206.4:c.172G>A	XP_005258263.1:p.Val58Ile
NM_004949.5:c.601G>A	NP_004940.1:p.Val201Ile
NM_024422.6:c.601G>A MANE Select	NP_077740.1:p.Val201Ile