Canonical Allele Identifier: CA022575

Gene: DSC2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31074730del , CM000680.2:g.31074730del	GRCh38
NC_000018.9:g.28654696del , CM000680.1:g.28654696del	GRCh37
NC_000018.8:g.26908694del	NCBI36
NG_008208.2:g.32696del , LRG_400:g.32696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1412del	ENSP00000507826.1:p.Ser471IlefsTer12
ENST00000251081.8:c.1841del	ENSP00000251081.6:p.Ser614IlefsTer12
ENST00000280904.11:c.1841del MANE Select	ENSP00000280904.6:p.Ser614IlefsTer12
ENST00000648081.1:c.1412del	ENSP00000497441.1:p.Ser471IlefsTer12
ENST00000251081.6:c.1841del	ENSP00000251081.6:p.Ser614IlefsTer12
ENST00000280904.10:c.1841del	ENSP00000280904.6:p.Ser614IlefsTer12
NM_004949.4:c.1841del	NP_004940.1:p.Ser614IlefsTer12
NM_024422.4:c.1841del	NP_077740.1:p.Ser614IlefsTer12
XM_005258206.3:c.1412del	XP_005258263.1:p.Ser471IlefsTer12
XM_005258206.4:c.1412del	XP_005258263.1:p.Ser471IlefsTer12
NM_004949.5:c.1841del	NP_004940.1:p.Ser614IlefsTer12
NM_024422.6:c.1841del MANE Select	NP_077740.1:p.Ser614IlefsTer12