Canonical Allele Identifier: CA645372289

Gene: DSC2

Linked Data

• dbSNP Id: rs1286808713
• MyVariant Identifiers: chr18:g.28650708del (hg19) ; chr18:g.31070742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070743del , CM000680.2:g.31070743del	GRCh38
NC_000018.9:g.28650709del , CM000680.1:g.28650709del	GRCh37
NC_000018.8:g.26904707del	NCBI36
NG_008208.2:g.36684del , LRG_400:g.36684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1805del	ENSP00000507826.1:p.Pro602LeufsTer?
ENST00000251081.8:c.2234del	ENSP00000251081.6:p.Pro745LeufsTer?
ENST00000280904.11:c.2234del MANE Select	ENSP00000280904.6:p.Pro745LeufsTer?
ENST00000648081.1:c.1805del	ENSP00000497441.1:p.Pro602LeufsTer?
ENST00000251081.6:c.2234del	ENSP00000251081.6:p.Pro745LeufsTer?
ENST00000280904.10:c.2234del	ENSP00000280904.6:p.Pro745LeufsTer?
NM_004949.4:c.2234del	NP_004940.1:p.Pro745LeufsTer?
NM_024422.4:c.2234del	NP_077740.1:p.Pro745LeufsTer?
XM_005258206.3:c.1805del	XP_005258263.1:p.Pro602LeufsTer?
XM_005258206.4:c.1805del	XP_005258263.1:p.Pro602LeufsTer?
NM_004949.5:c.2234del	NP_004940.1:p.Pro745LeufsTer?
NM_024422.6:c.2234del MANE Select	NP_077740.1:p.Pro745LeufsTer?