Canonical Allele Identifier: CA034901

Gene: DSC2

Linked Data

• dbSNP Id: rs771061771
• ExAC: 18:28650863 A / C
• gnomAD v2: 18-28650863-A-C
• gnomAD v4: 18-31070897-A-C
• MyVariant Identifiers: chr18:g.28650863A>C (hg19) ; chr18:g.31070897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070897A>C , CM000680.2:g.31070897A>C	GRCh38
NC_000018.9:g.28650863A>C , CM000680.1:g.28650863A>C	GRCh37
NC_000018.8:g.26904861A>C	NCBI36
NG_008208.2:g.36529T>G , LRG_400:g.36529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1697-47T>G	ENSP00000507826.1:n.1697-47T>G
ENST00000251081.8:c.2126-47T>G	ENSP00000251081.6:n.2126-47T>G
ENST00000280904.11:c.2126-47T>G MANE Select	ENSP00000280904.6:n.2126-47T>G
ENST00000648081.1:c.1697-47T>G	ENSP00000497441.1:n.1697-47T>G
ENST00000251081.6:c.2126-47T>G	ENSP00000251081.6:n.2126-47T>G
ENST00000280904.10:c.2126-47T>G	ENSP00000280904.6:n.2126-47T>G
NM_004949.4:c.2126-47T>G	NP_004940.1:n.2126-47T>G
NM_024422.4:c.2126-47T>G	NP_077740.1:n.2126-47T>G
XM_005258206.3:c.1697-47T>G	XP_005258263.1:n.1697-47T>G
XM_005258206.4:c.1697-47T>G	XP_005258263.1:n.1697-47T>G
NM_004949.5:c.2126-47T>G	NP_004940.1:n.2126-47T>G
NM_024422.6:c.2126-47T>G MANE Select	NP_077740.1:n.2126-47T>G