Canonical Allele Identifier: CA297641533

Gene: DSC2

Linked Data

• dbSNP Id: rs942204002
• gnomAD v3: 18-31089173-A-AAC
• gnomAD v4: 18-31089173-A-AAC
• MyVariant Identifiers: chr18:g.28669136_28669137insAC (hg19) ; chr18:g.31089173_31089174insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089174_31089175insCA , CM000680.2:g.31089174_31089175insCA	GRCh38
NC_000018.9:g.28669137_28669138insCA , CM000680.1:g.28669137_28669138insCA	GRCh37
NC_000018.8:g.26923135_26923136insCA	NCBI36
NG_008208.2:g.18252_18253insGT , LRG_400:g.18252_18253insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+265_201+266insGT	ENSP00000507826.1:n.201+265_201+266insGT
ENST00000251081.8:c.630+265_630+266insGT	ENSP00000251081.6:n.630+265_630+266insGT
ENST00000280904.11:c.630+265_630+266insGT MANE Select	ENSP00000280904.6:n.630+265_630+266insGT
ENST00000648081.1:c.201+265_201+266insGT	ENSP00000497441.1:n.201+265_201+266insGT
ENST00000251081.6:c.630+265_630+266insGT	ENSP00000251081.6:n.630+265_630+266insGT
ENST00000280904.10:c.630+265_630+266insGT	ENSP00000280904.6:n.630+265_630+266insGT
NM_004949.4:c.630+265_630+266insGT	NP_004940.1:n.630+265_630+266insGT
NM_024422.4:c.630+265_630+266insGT	NP_077740.1:n.630+265_630+266insGT
XM_005258206.3:c.201+265_201+266insGT	XP_005258263.1:n.201+265_201+266insGT
XM_005258206.4:c.201+265_201+266insGT	XP_005258263.1:n.201+265_201+266insGT
NM_004949.5:c.630+265_630+266insGT	NP_004940.1:n.630+265_630+266insGT
NM_024422.6:c.630+265_630+266insGT MANE Select	NP_077740.1:n.630+265_630+266insGT