Canonical Allele Identifier: CA038831

Gene: DSC2

Linked Data

• ClinVar Variation Id: 919303
• ClinVar RCV Id: RCV001177418 ; RCV001192740 ; RCV001456097 ; RCV003346349 ; RCV004006384
• dbSNP Id: rs749063028
• ExAC: 18:28669471 A / G
• gnomAD v2: 18-28669471-A-G
• gnomAD v4: 18-31089508-A-G
• MyVariant Identifiers: chr18:g.28669471A>G (hg19) ; chr18:g.31089508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089508A>G , CM000680.2:g.31089508A>G	GRCh38
NC_000018.9:g.28669471A>G , CM000680.1:g.28669471A>G	GRCh37
NC_000018.8:g.26923469A>G	NCBI36
NG_008208.2:g.17918T>C , LRG_400:g.17918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.132T>C	ENSP00000507826.1:p.Tyr44=
ENST00000251081.8:c.561T>C	ENSP00000251081.6:p.Tyr187=
ENST00000280904.11:c.561T>C MANE Select	ENSP00000280904.6:p.Tyr187=
ENST00000648081.1:c.132T>C	ENSP00000497441.1:p.Tyr44=
ENST00000251081.6:c.561T>C	ENSP00000251081.6:p.Tyr187=
ENST00000280904.10:c.561T>C	ENSP00000280904.6:p.Tyr187=
NM_004949.4:c.561T>C	NP_004940.1:p.Tyr187=
NM_024422.4:c.561T>C	NP_077740.1:p.Tyr187=
XM_005258206.3:c.132T>C	XP_005258263.1:p.Tyr44=
XM_005258206.4:c.132T>C	XP_005258263.1:p.Tyr44=
NM_004949.5:c.561T>C	NP_004940.1:p.Tyr187=
NM_024422.6:c.561T>C MANE Select	NP_077740.1:p.Tyr187=