Canonical Allele Identifier: CA402113445
Gene: DSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1354554053

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089470G>T , CM000680.2:g.31089470G>T GRCh38
NC_000018.9:g.28669433G>T , CM000680.1:g.28669433G>T GRCh37
NC_000018.8:g.26923431G>T NCBI36
NG_008208.2:g.17956C>A , LRG_400:g.17956C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.170C>A ENSP00000507826.1:p.Pro57His
ENST00000251081.8:c.599C>A ENSP00000251081.6:p.Pro200His
ENST00000280904.11:c.599C>A MANE Select ENSP00000280904.6:p.Pro200His
ENST00000648081.1:c.170C>A ENSP00000497441.1:p.Pro57His
ENST00000251081.6:c.599C>A ENSP00000251081.6:p.Pro200His
ENST00000280904.10:c.599C>A ENSP00000280904.6:p.Pro200His
NM_004949.4:c.599C>A NP_004940.1:p.Pro200His
NM_024422.4:c.599C>A NP_077740.1:p.Pro200His
XM_005258206.3:c.170C>A XP_005258263.1:p.Pro57His
XM_005258206.4:c.170C>A XP_005258263.1:p.Pro57His
NM_004949.5:c.599C>A NP_004940.1:p.Pro200His
NM_024422.6:c.599C>A MANE Select NP_077740.1:p.Pro200His