Canonical Allele Identifier: CA503389671

Gene: DSC2

Linked Data

• ClinVar Variation Id: 889855
• ClinVar RCV Id: RCV001124009 ; RCV001726433 ; RCV002355117 ; RCV001699511
• dbSNP Id: rs1987518239
• gnomAD v4: 18-31089481-A-G
• MyVariant Identifiers: chr18:g.28669444A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089481A>G , CM000680.2:g.31089481A>G	GRCh38
NC_000018.9:g.28669444A>G , CM000680.1:g.28669444A>G	GRCh37
NC_000018.8:g.26923442A>G	NCBI36
NG_008208.2:g.17945T>C , LRG_400:g.17945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.159T>C	ENSP00000507826.1:p.Tyr53=
ENST00000251081.8:c.588T>C	ENSP00000251081.6:p.Tyr196=
ENST00000280904.11:c.588T>C MANE Select	ENSP00000280904.6:p.Tyr196=
ENST00000648081.1:c.159T>C	ENSP00000497441.1:p.Tyr53=
ENST00000251081.6:c.588T>C	ENSP00000251081.6:p.Tyr196=
ENST00000280904.10:c.588T>C	ENSP00000280904.6:p.Tyr196=
NM_004949.4:c.588T>C	NP_004940.1:p.Tyr196=
NM_024422.4:c.588T>C	NP_077740.1:p.Tyr196=
XM_005258206.3:c.159T>C	XP_005258263.1:p.Tyr53=
XM_005258206.4:c.159T>C	XP_005258263.1:p.Tyr53=
NM_004949.5:c.588T>C	NP_004940.1:p.Tyr196=
NM_024422.6:c.588T>C MANE Select	NP_077740.1:p.Tyr196=