Canonical Allele Identifier: CA503384767

Gene: DSC2

Linked Data

• COSMIC: COSM5585057 ; COSM5585058
• MyVariant Identifiers: chr18:g.28650797G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070831G>T , CM000680.2:g.31070831G>T	GRCh38
NC_000018.9:g.28650797G>T , CM000680.1:g.28650797G>T	GRCh37
NC_000018.8:g.26904795G>T	NCBI36
NG_008208.2:g.36595C>A , LRG_400:g.36595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1716C>A	ENSP00000507826.1:p.Val572=
ENST00000251081.8:c.2145C>A	ENSP00000251081.6:p.Val715=
ENST00000280904.11:c.2145C>A MANE Select	ENSP00000280904.6:p.Val715=
ENST00000648081.1:c.1716C>A	ENSP00000497441.1:p.Val572=
ENST00000251081.6:c.2145C>A	ENSP00000251081.6:p.Val715=
ENST00000280904.10:c.2145C>A	ENSP00000280904.6:p.Val715=
NM_004949.4:c.2145C>A	NP_004940.1:p.Val715=
NM_024422.4:c.2145C>A	NP_077740.1:p.Val715=
XM_005258206.3:c.1716C>A	XP_005258263.1:p.Val572=
XM_005258206.4:c.1716C>A	XP_005258263.1:p.Val572=
NM_004949.5:c.2145C>A	NP_004940.1:p.Val715=
NM_024422.6:c.2145C>A MANE Select	NP_077740.1:p.Val715=