Canonical Allele Identifier: CA629136614

Gene: DSC2

Linked Data

• dbSNP Id: rs1253811750
• gnomAD v2: 18-28669137-A-AC
• gnomAD v3: 18-31089174-A-AC
• gnomAD v4: 18-31089174-A-AC
• MyVariant Identifiers: chr18:g.28669137_28669138insC (hg19) ; chr18:g.31089174_31089175insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089174_31089175insC , CM000680.2:g.31089174_31089175insC	GRCh38
NC_000018.9:g.28669137_28669138insC , CM000680.1:g.28669137_28669138insC	GRCh37
NC_000018.8:g.26923135_26923136insC	NCBI36
NG_008208.2:g.18251_18252insG , LRG_400:g.18251_18252insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+264_201+265insG	ENSP00000507826.1:n.201+264_201+265insG
ENST00000251081.8:c.630+264_630+265insG	ENSP00000251081.6:n.630+264_630+265insG
ENST00000280904.11:c.630+264_630+265insG MANE Select	ENSP00000280904.6:n.630+264_630+265insG
ENST00000648081.1:c.201+264_201+265insG	ENSP00000497441.1:n.201+264_201+265insG
ENST00000251081.6:c.630+264_630+265insG	ENSP00000251081.6:n.630+264_630+265insG
ENST00000280904.10:c.630+264_630+265insG	ENSP00000280904.6:n.630+264_630+265insG
NM_004949.4:c.630+264_630+265insG	NP_004940.1:n.630+264_630+265insG
NM_024422.4:c.630+264_630+265insG	NP_077740.1:n.630+264_630+265insG
XM_005258206.3:c.201+264_201+265insG	XP_005258263.1:n.201+264_201+265insG
XM_005258206.4:c.201+264_201+265insG	XP_005258263.1:n.201+264_201+265insG
NM_004949.5:c.630+264_630+265insG	NP_004940.1:n.630+264_630+265insG
NM_024422.6:c.630+264_630+265insG MANE Select	NP_077740.1:n.630+264_630+265insG