Canonical Allele Identifier: CA402112580

Gene: DSC2

Linked Data

• ClinVar Variation Id: 1786436
• ClinVar RCV Id: RCV002417813
• gnomAD v4: 18-31070844-A-T
• MyVariant Identifiers: chr18:g.28650810A>T (hg19) ; chr18:g.31070844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070844A>T , CM000680.2:g.31070844A>T	GRCh38
NC_000018.9:g.28650810A>T , CM000680.1:g.28650810A>T	GRCh37
NC_000018.8:g.26904808A>T	NCBI36
NG_008208.2:g.36582T>A , LRG_400:g.36582T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1703T>A	ENSP00000507826.1:p.Leu568Gln
ENST00000251081.8:c.2132T>A	ENSP00000251081.6:p.Leu711Gln
ENST00000280904.11:c.2132T>A MANE Select	ENSP00000280904.6:p.Leu711Gln
ENST00000648081.1:c.1703T>A	ENSP00000497441.1:p.Leu568Gln
ENST00000251081.6:c.2132T>A	ENSP00000251081.6:p.Leu711Gln
ENST00000280904.10:c.2132T>A	ENSP00000280904.6:p.Leu711Gln
NM_004949.4:c.2132T>A	NP_004940.1:p.Leu711Gln
NM_024422.4:c.2132T>A	NP_077740.1:p.Leu711Gln
XM_005258206.3:c.1703T>A	XP_005258263.1:p.Leu568Gln
XM_005258206.4:c.1703T>A	XP_005258263.1:p.Leu568Gln
NM_004949.5:c.2132T>A	NP_004940.1:p.Leu711Gln
NM_024422.6:c.2132T>A MANE Select	NP_077740.1:p.Leu711Gln