Canonical Allele Identifier: CA778399255

Gene: DSC2

Linked Data

• dbSNP Id: rs72159854
• MyVariant Identifiers: chr18:g.28669145_28669146insAC (hg19) ; chr18:g.31089182_31089183insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089183_31089184dup , CM000680.2:g.31089183_31089184dup	GRCh38
NC_000018.9:g.28669146_28669147dup , CM000680.1:g.28669146_28669147dup	GRCh37
NC_000018.8:g.26923144_26923145dup	NCBI36
NG_008208.2:g.18242_18243dup , LRG_400:g.18242_18243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+255_201+256dup	ENSP00000507826.1:n.201+255_201+256dup
ENST00000251081.8:c.630+255_630+256dup	ENSP00000251081.6:n.630+255_630+256dup
ENST00000280904.11:c.630+255_630+256dup MANE Select	ENSP00000280904.6:n.630+255_630+256dup
ENST00000648081.1:c.201+255_201+256dup	ENSP00000497441.1:n.201+255_201+256dup
ENST00000251081.6:c.630+255_630+256dup	ENSP00000251081.6:n.630+255_630+256dup
ENST00000280904.10:c.630+255_630+256dup	ENSP00000280904.6:n.630+255_630+256dup
NM_004949.4:c.630+255_630+256dup	NP_004940.1:n.630+255_630+256dup
NM_024422.4:c.630+255_630+256dup	NP_077740.1:n.630+255_630+256dup
XM_005258206.3:c.201+255_201+256dup	XP_005258263.1:n.201+255_201+256dup
XM_005258206.4:c.201+255_201+256dup	XP_005258263.1:n.201+255_201+256dup
NM_004949.5:c.630+255_630+256dup	NP_004940.1:n.630+255_630+256dup
NM_024422.6:c.630+255_630+256dup MANE Select	NP_077740.1:n.630+255_630+256dup