Canonical Allele Identifier: CA022741

Gene: DSC2

Linked Data

• ClinVar Variation Id: 199779
• ClinVar RCV Id: RCV000181174 ; RCV003517141
• dbSNP Id: rs794728073
• MyVariant Identifiers: chr18:g.28648881del (hg19) ; chr18:g.31068915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068918del , CM000680.2:g.31068918del	GRCh38
NC_000018.9:g.28648884del , CM000680.1:g.28648884del	GRCh37
NC_000018.8:g.26902882del	NCBI36
NG_008208.2:g.38511del , LRG_400:g.38511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2058del	ENSP00000507826.1:p.Phe686LeufsTer27
ENST00000251081.8:c.2487del	ENSP00000251081.6:p.Phe829LeufsTer16
ENST00000280904.11:c.2487del MANE Select	ENSP00000280904.6:p.Phe829LeufsTer27
ENST00000648081.1:c.2058del	ENSP00000497441.1:p.Phe686LeufsTer27
ENST00000251081.6:c.2487del	ENSP00000251081.6:p.Phe829LeufsTer16
ENST00000280904.10:c.2487del	ENSP00000280904.6:p.Phe829LeufsTer27
NM_004949.4:c.2487del	NP_004940.1:p.Phe829LeufsTer16
NM_024422.4:c.2487del	NP_077740.1:p.Phe829LeufsTer27
XM_005258206.3:c.2058del	XP_005258263.1:p.Phe686LeufsTer27
XM_005258206.4:c.2058del	XP_005258263.1:p.Phe686LeufsTer27
NM_004949.5:c.2487del	NP_004940.1:p.Phe829LeufsTer16
NM_024422.6:c.2487del MANE Select	NP_077740.1:p.Phe829LeufsTer27