Canonical Allele Identifier: CA035502

Gene: DSC2

Linked Data

• ClinVar Variation Id: 925539
• ClinVar RCV Id: RCV001187517 ; RCV001225740 ; RCV003293956 ; RCV004008707
• dbSNP Id: rs758269321
• ExAC: 18:28650711 G / A
• gnomAD v2: 18-28650711-G-A
• gnomAD v4: 18-31070745-G-A
• MyVariant Identifiers: chr18:g.28650711G>A (hg19) ; chr18:g.31070745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070745G>A , CM000680.2:g.31070745G>A	GRCh38
NC_000018.9:g.28650711G>A , CM000680.1:g.28650711G>A	GRCh37
NC_000018.8:g.26904709G>A	NCBI36
NG_008208.2:g.36681C>T , LRG_400:g.36681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1802C>T	ENSP00000507826.1:p.Ala601Val
ENST00000251081.8:c.2231C>T	ENSP00000251081.6:p.Ala744Val
ENST00000280904.11:c.2231C>T MANE Select	ENSP00000280904.6:p.Ala744Val
ENST00000648081.1:c.1802C>T	ENSP00000497441.1:p.Ala601Val
ENST00000251081.6:c.2231C>T	ENSP00000251081.6:p.Ala744Val
ENST00000280904.10:c.2231C>T	ENSP00000280904.6:p.Ala744Val
NM_004949.4:c.2231C>T	NP_004940.1:p.Ala744Val
NM_024422.4:c.2231C>T	NP_077740.1:p.Ala744Val
XM_005258206.3:c.1802C>T	XP_005258263.1:p.Ala601Val
XM_005258206.4:c.1802C>T	XP_005258263.1:p.Ala601Val
NM_004949.5:c.2231C>T	NP_004940.1:p.Ala744Val
NM_024422.6:c.2231C>T MANE Select	NP_077740.1:p.Ala744Val