Canonical Allele Identifier: CA2293654766

Gene: DSC2

Linked Data

• dbSNP Id: rs1987501090

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089162_31089163insAA , CM000680.2:g.31089162_31089163insAA	GRCh38
NC_000018.9:g.28669125_28669126insAA , CM000680.1:g.28669125_28669126insAA	GRCh37
NC_000018.8:g.26923123_26923124insAA	NCBI36
NG_008208.2:g.18263_18264insTT , LRG_400:g.18263_18264insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+276_201+277insTT	ENSP00000507826.1:n.201+276_201+277insTT
ENST00000251081.8:c.630+276_630+277insTT	ENSP00000251081.6:n.630+276_630+277insTT
ENST00000280904.11:c.630+276_630+277insTT MANE Select	ENSP00000280904.6:n.630+276_630+277insTT
ENST00000648081.1:c.201+276_201+277insTT	ENSP00000497441.1:n.201+276_201+277insTT
ENST00000251081.6:c.630+276_630+277insTT	ENSP00000251081.6:n.630+276_630+277insTT
ENST00000280904.10:c.630+276_630+277insTT	ENSP00000280904.6:n.630+276_630+277insTT
NM_004949.4:c.630+276_630+277insTT	NP_004940.1:n.630+276_630+277insTT
NM_024422.4:c.630+276_630+277insTT	NP_077740.1:n.630+276_630+277insTT
XM_005258206.3:c.201+276_201+277insTT	XP_005258263.1:n.201+276_201+277insTT
XM_005258206.4:c.201+276_201+277insTT	XP_005258263.1:n.201+276_201+277insTT
NM_004949.5:c.630+276_630+277insTT	NP_004940.1:n.630+276_630+277insTT
NM_024422.6:c.630+276_630+277insTT MANE Select	NP_077740.1:n.630+276_630+277insTT