Canonical Allele Identifier: CA038851

Gene: DSC2

Linked Data

• dbSNP Id: rs146754448
• ExAC: 18:28669470 C / A
• gnomAD v2: 18-28669470-C-A
• gnomAD v3: 18-31089507-C-A
• gnomAD v4: 18-31089507-C-A
• COSMIC: COSM438033 ; COSM1480281
• MyVariant Identifiers: chr18:g.28669470C>A (hg19) ; chr18:g.31089507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089507C>A , CM000680.2:g.31089507C>A	GRCh38
NC_000018.9:g.28669470C>A , CM000680.1:g.28669470C>A	GRCh37
NC_000018.8:g.26923468C>A	NCBI36
NG_008208.2:g.17919G>T , LRG_400:g.17919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.133G>T	ENSP00000507826.1:p.Val45Leu
ENST00000251081.8:c.562G>T	ENSP00000251081.6:p.Val188Leu
ENST00000280904.11:c.562G>T MANE Select	ENSP00000280904.6:p.Val188Leu
ENST00000648081.1:c.133G>T	ENSP00000497441.1:p.Val45Leu
ENST00000251081.6:c.562G>T	ENSP00000251081.6:p.Val188Leu
ENST00000280904.10:c.562G>T	ENSP00000280904.6:p.Val188Leu
NM_004949.4:c.562G>T	NP_004940.1:p.Val188Leu
NM_024422.4:c.562G>T	NP_077740.1:p.Val188Leu
XM_005258206.3:c.133G>T	XP_005258263.1:p.Val45Leu
XM_005258206.4:c.133G>T	XP_005258263.1:p.Val45Leu
NM_004949.5:c.562G>T	NP_004940.1:p.Val188Leu
NM_024422.6:c.562G>T MANE Select	NP_077740.1:p.Val188Leu