Canonical Allele Identifier: CA402110751

Gene: DSC2

Linked Data

• ClinVar Variation Id: 468388
• ClinVar RCV Id: RCV000547700
• dbSNP Id: rs1555639134
• MyVariant Identifiers: chr18:g.28662973A>C (hg19) ; chr18:g.31083007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31083007A>C , CM000680.2:g.31083007A>C	GRCh38
NC_000018.9:g.28662973A>C , CM000680.1:g.28662973A>C	GRCh37
NC_000018.8:g.26916971A>C	NCBI36
NG_008208.2:g.24419T>G , LRG_400:g.24419T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.567T>G	ENSP00000507826.1:p.Tyr189Ter
ENST00000251081.8:c.996T>G	ENSP00000251081.6:p.Tyr332Ter
ENST00000280904.11:c.996T>G MANE Select	ENSP00000280904.6:p.Tyr332Ter
ENST00000648081.1:c.567T>G	ENSP00000497441.1:p.Tyr189Ter
ENST00000251081.6:c.996T>G	ENSP00000251081.6:p.Tyr332Ter
ENST00000280904.10:c.996T>G	ENSP00000280904.6:p.Tyr332Ter
NM_004949.4:c.996T>G	NP_004940.1:p.Tyr332Ter
NM_024422.4:c.996T>G	NP_077740.1:p.Tyr332Ter
XM_005258206.3:c.567T>G	XP_005258263.1:p.Tyr189Ter
XM_005258206.4:c.567T>G	XP_005258263.1:p.Tyr189Ter
NM_004949.5:c.996T>G	NP_004940.1:p.Tyr332Ter
NM_024422.6:c.996T>G MANE Select	NP_077740.1:p.Tyr332Ter