Canonical Allele Identifier: CA035580
Gene: DSC2 HGNC NCBI

Linked Data

dbSNP Id: rs753775769

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070728C>G , CM000680.2:g.31070728C>G GRCh38
NC_000018.9:g.28650694C>G , CM000680.1:g.28650694C>G GRCh37
NC_000018.8:g.26904692C>G NCBI36
NG_008208.2:g.36698G>C , LRG_400:g.36698G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1819G>C ENSP00000507826.1:p.Val607Leu
ENST00000251081.8:c.2248G>C ENSP00000251081.6:p.Val750Leu
ENST00000280904.11:c.2248G>C MANE Select ENSP00000280904.6:p.Val750Leu
ENST00000648081.1:c.1819G>C ENSP00000497441.1:p.Val607Leu
ENST00000251081.6:c.2248G>C ENSP00000251081.6:p.Val750Leu
ENST00000280904.10:c.2248G>C ENSP00000280904.6:p.Val750Leu
NM_004949.4:c.2248G>C NP_004940.1:p.Val750Leu
NM_024422.4:c.2248G>C NP_077740.1:p.Val750Leu
XM_005258206.3:c.1819G>C XP_005258263.1:p.Val607Leu
XM_005258206.4:c.1819G>C XP_005258263.1:p.Val607Leu
NM_004949.5:c.2248G>C NP_004940.1:p.Val750Leu
NM_024422.6:c.2248G>C MANE Select NP_077740.1:p.Val750Leu