Canonical Allele Identifier: CA037497

Gene: DSC2

Linked Data

• ClinVar Variation Id: 326392
• ClinVar RCV Id: RCV000343990 ; RCV001636921
• dbSNP Id: rs77431927
• ExAC: 18:28647935 T / A
• gnomAD v2: 18-28647935-T-A
• gnomAD v3: 18-31067969-T-A
• gnomAD v4: 18-31067969-T-A
• MyVariant Identifiers: chr18:g.28647935T>A (hg19) ; chr18:g.31067969T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067969T>A , CM000680.2:g.31067969T>A	GRCh38
NC_000018.9:g.28647935T>A , CM000680.1:g.28647935T>A	GRCh37
NC_000018.8:g.26901933T>A	NCBI36
NG_008208.2:g.39457A>T , LRG_400:g.39457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*46A>T	ENSP00000507826.1:n.*46A>T
ENST00000251081.8:c.*254A>T	ENSP00000251081.6:n.*254A>T
ENST00000280904.11:c.*46A>T MANE Select	ENSP00000280904.6:n.*46A>T
ENST00000648081.1:c.*46A>T	ENSP00000497441.1:n.*46A>T
ENST00000251081.6:c.*254A>T	ENSP00000251081.6:n.*254A>T
ENST00000280904.10:c.*46A>T	ENSP00000280904.6:n.*46A>T
NM_004949.4:c.*254A>T	NP_004940.1:n.*254A>T
NM_024422.4:c.*46A>T	NP_077740.1:n.*46A>T
XM_005258206.3:c.*46A>T	XP_005258263.1:n.*46A>T
XM_005258206.4:c.*46A>T	XP_005258263.1:n.*46A>T
NM_004949.5:c.*254A>T	NP_004940.1:n.*254A>T
NM_024422.6:c.*46A>T MANE Select	NP_077740.1:n.*46A>T