Canonical Allele Identifier: CA029438

Gene: DSC2

Linked Data

• ClinVar Variation Id: 427964
• ClinVar RCV Id: RCV000520921 ; RCV000497924 ; RCV000704414 ; RCV001188643 ; RCV002431433 ; RCV004003436
• dbSNP Id: rs141873745
• ExAC: 18:28648084 G / A
• gnomAD v2: 18-28648084-G-A
• gnomAD v3: 18-31068118-G-A
• gnomAD v4: 18-31068118-G-A
• MyVariant Identifiers: chr18:g.28648084G>A (hg19) ; chr18:g.31068118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068118G>A , CM000680.2:g.31068118G>A	GRCh38
NC_000018.9:g.28648084G>A , CM000680.1:g.28648084G>A	GRCh37
NC_000018.8:g.26902082G>A	NCBI36
NG_008208.2:g.39308C>T , LRG_400:g.39308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2174C>T	ENSP00000507826.1:p.Ser725Phe
ENST00000251081.8:c.*105C>T	ENSP00000251081.6:n.*105C>T
ENST00000280904.11:c.2603C>T MANE Select	ENSP00000280904.6:p.Ser868Phe
ENST00000648081.1:c.2174C>T	ENSP00000497441.1:p.Ser725Phe
ENST00000251081.6:c.*105C>T	ENSP00000251081.6:n.*105C>T
ENST00000280904.10:c.2603C>T	ENSP00000280904.6:p.Ser868Phe
NM_004949.4:c.*105C>T	NP_004940.1:n.*105C>T
NM_024422.4:c.2603C>T	NP_077740.1:p.Ser868Phe
XM_005258206.3:c.2174C>T	XP_005258263.1:p.Ser725Phe
XM_005258206.4:c.2174C>T	XP_005258263.1:p.Ser725Phe
NM_004949.5:c.*105C>T	NP_004940.1:n.*105C>T
NM_024422.6:c.2603C>T MANE Select	NP_077740.1:p.Ser868Phe