Canonical Allele Identifier: CA2293654878

Gene: DSC2

Linked Data

• dbSNP Id: rs1987512031

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089337_31089338insTCTGAGTTCT , CM000680.2:g.31089337_31089338insTCTGAGTTCT	GRCh38
NC_000018.9:g.28669300_28669301insTCTGAGTTCT , CM000680.1:g.28669300_28669301insTCTGAGTTCT	GRCh37
NC_000018.8:g.26923298_26923299insTCTGAGTTCT	NCBI36
NG_008208.2:g.18089_18090insGAACTCAGAA , LRG_400:g.18089_18090insGAACTCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+102_201+103insGAACTCAGAA	ENSP00000507826.1:n.201+102_201+103insGAACTCAGAA
ENST00000251081.8:c.630+102_630+103insGAACTCAGAA	ENSP00000251081.6:n.630+102_630+103insGAACTCAGAA
ENST00000280904.11:c.630+102_630+103insGAACTCAGAA MANE Select	ENSP00000280904.6:n.630+102_630+103insGAACTCAGAA
ENST00000648081.1:c.201+102_201+103insGAACTCAGAA	ENSP00000497441.1:n.201+102_201+103insGAACTCAGAA
ENST00000251081.6:c.630+102_630+103insGAACTCAGAA	ENSP00000251081.6:n.630+102_630+103insGAACTCAGAA
ENST00000280904.10:c.630+102_630+103insGAACTCAGAA	ENSP00000280904.6:n.630+102_630+103insGAACTCAGAA
NM_004949.4:c.630+102_630+103insGAACTCAGAA	NP_004940.1:n.630+102_630+103insGAACTCAGAA
NM_024422.4:c.630+102_630+103insGAACTCAGAA	NP_077740.1:n.630+102_630+103insGAACTCAGAA
XM_005258206.3:c.201+102_201+103insGAACTCAGAA	XP_005258263.1:n.201+102_201+103insGAACTCAGAA
XM_005258206.4:c.201+102_201+103insGAACTCAGAA	XP_005258263.1:n.201+102_201+103insGAACTCAGAA
NM_004949.5:c.630+102_630+103insGAACTCAGAA	NP_004940.1:n.630+102_630+103insGAACTCAGAA
NM_024422.6:c.630+102_630+103insGAACTCAGAA MANE Select	NP_077740.1:n.630+102_630+103insGAACTCAGAA