Canonical Allele Identifier: CA032585

Gene: DSC2

Linked Data

• ClinVar Variation Id: 519457
• ClinVar RCV Id: RCV000618122 ; RCV001047699 ; RCV001249442 ; RCV001185004 ; RCV004002696
• dbSNP Id: rs369849387
• ExAC: 18:28659809 T / C
• gnomAD v2: 18-28659809-T-C
• gnomAD v3: 18-31079843-T-C
• gnomAD v4: 18-31079843-T-C
• MyVariant Identifiers: chr18:g.28659809T>C (hg19) ; chr18:g.31079843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31079843T>C , CM000680.2:g.31079843T>C	GRCh38
NC_000018.9:g.28659809T>C , CM000680.1:g.28659809T>C	GRCh37
NC_000018.8:g.26913807T>C	NCBI36
NG_008208.2:g.27583A>G , LRG_400:g.27583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1234+4A>G	ENSP00000507826.1:n.1234+4A>G
ENST00000251081.8:c.1663+4A>G	ENSP00000251081.6:n.1663+4A>G
ENST00000280904.11:c.1663+4A>G MANE Select	ENSP00000280904.6:n.1663+4A>G
ENST00000648081.1:c.1234+4A>G	ENSP00000497441.1:n.1234+4A>G
ENST00000251081.6:c.1663+4A>G	ENSP00000251081.6:n.1663+4A>G
ENST00000280904.10:c.1663+4A>G	ENSP00000280904.6:n.1663+4A>G
NM_004949.4:c.1663+4A>G	NP_004940.1:n.1663+4A>G
NM_024422.4:c.1663+4A>G	NP_077740.1:n.1663+4A>G
XM_005258206.3:c.1234+4A>G	XP_005258263.1:n.1234+4A>G
XM_005258206.4:c.1234+4A>G	XP_005258263.1:n.1234+4A>G
NM_004949.5:c.1663+4A>G	NP_004940.1:n.1663+4A>G
NM_024422.6:c.1663+4A>G MANE Select	NP_077740.1:n.1663+4A>G