Canonical Allele Identifier: CA778393421

Gene: DSC2

Linked Data

• dbSNP Id: rs1462279737
• gnomAD v4: 18-31070916-G-T
• MyVariant Identifiers: chr18:g.28650882G>T (hg19) ; chr18:g.31070916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070916G>T , CM000680.2:g.31070916G>T	GRCh38
NC_000018.9:g.28650882G>T , CM000680.1:g.28650882G>T	GRCh37
NC_000018.8:g.26904880G>T	NCBI36
NG_008208.2:g.36510C>A , LRG_400:g.36510C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1697-66C>A	ENSP00000507826.1:n.1697-66C>A
ENST00000251081.8:c.2126-66C>A	ENSP00000251081.6:n.2126-66C>A
ENST00000280904.11:c.2126-66C>A MANE Select	ENSP00000280904.6:n.2126-66C>A
ENST00000648081.1:c.1697-66C>A	ENSP00000497441.1:n.1697-66C>A
ENST00000251081.6:c.2126-66C>A	ENSP00000251081.6:n.2126-66C>A
ENST00000280904.10:c.2126-66C>A	ENSP00000280904.6:n.2126-66C>A
NM_004949.4:c.2126-66C>A	NP_004940.1:n.2126-66C>A
NM_024422.4:c.2126-66C>A	NP_077740.1:n.2126-66C>A
XM_005258206.3:c.1697-66C>A	XP_005258263.1:n.1697-66C>A
XM_005258206.4:c.1697-66C>A	XP_005258263.1:n.1697-66C>A
NM_004949.5:c.2126-66C>A	NP_004940.1:n.2126-66C>A
NM_024422.6:c.2126-66C>A MANE Select	NP_077740.1:n.2126-66C>A