Canonical Allele Identifier: CA658799031

Gene: DSC2

Linked Data

• ClinVar Variation Id: 523695
• ClinVar RCV Id: RCV000627125 ; RCV002529804
• dbSNP Id: rs1555637555
• MyVariant Identifiers: chr18:g.28651580_28651584del (hg19) ; chr18:g.31071614_31071618del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31071618_31071622del , CM000680.2:g.31071618_31071622del	GRCh38
NC_000018.9:g.28651584_28651588del , CM000680.1:g.28651584_28651588del	GRCh37
NC_000018.8:g.26905582_26905586del	NCBI36
NG_008208.2:g.35808_35812del , LRG_400:g.35808_35812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1683_1687del	ENSP00000507826.1:p.Phe565HisfsTer14
ENST00000251081.8:c.2112_2116del	ENSP00000251081.6:p.Phe708HisfsTer14
ENST00000280904.11:c.2112_2116del MANE Select	ENSP00000280904.6:p.Phe708HisfsTer14
ENST00000648081.1:c.1683_1687del	ENSP00000497441.1:p.Phe565HisfsTer14
ENST00000251081.6:c.2112_2116del	ENSP00000251081.6:p.Phe708HisfsTer14
ENST00000280904.10:c.2112_2116del	ENSP00000280904.6:p.Phe708HisfsTer14
NM_004949.4:c.2112_2116del	NP_004940.1:p.Phe708HisfsTer14
NM_024422.4:c.2112_2116del	NP_077740.1:p.Phe708HisfsTer14
XM_005258206.3:c.1683_1687del	XP_005258263.1:p.Phe565HisfsTer14
XM_005258206.4:c.1683_1687del	XP_005258263.1:p.Phe565HisfsTer14
NM_004949.5:c.2112_2116del	NP_004940.1:p.Phe708HisfsTer14
NM_024422.6:c.2112_2116del MANE Select	NP_077740.1:p.Phe708HisfsTer14