Canonical Allele Identifier: CA402115305

Gene: DSC2 DSCAS

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31101956G>C , CM000680.2:g.31101956G>C	GRCh38
NC_000018.9:g.28681919G>C , CM000680.1:g.28681919G>C	GRCh37
NC_000018.8:g.26935917G>C	NCBI36
NG_008208.2:g.5470C>G , LRG_400:g.5470C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.16C>G (DSC2) MANE Select	NP_077740.1:p.Pro6Ala
ENST00000280904.11:c.16C>G (DSC2) MANE Select	ENSP00000280904.6:p.Pro6Ala
NM_004949.4:c.16C>G (DSC2)	NP_004940.1:p.Pro6Ala
NM_004949.5:c.16C>G (DSC2)	NP_004940.1:p.Pro6Ala
NM_024422.4:c.16C>G (DSC2)	NP_077740.1:p.Pro6Ala
NR_110785.1:n.136+233G>C (DSCAS)
ENST00000251081.6:c.16C>G (DSC2)	ENSP00000251081.6:p.Pro6Ala
ENST00000251081.8:c.16C>G (DSC2)	ENSP00000251081.6:p.Pro6Ala
ENST00000280904.10:c.16C>G (DSC2)	ENSP00000280904.6:p.Pro6Ala
ENST00000648081.1:c.-398+480C>G (DSC2)	ENSP00000497441.1:n.-398+480C>G
ENST00000682357.1:c.-361+480C>G (DSC2)	ENSP00000507826.1:n.-361+480C>G