Canonical Allele Identifier: CA2293654935
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089468C= , CM000680.2:g.31089468C= GRCh38
NC_000018.9:g.28669431C= , CM000680.1:g.28669431C= GRCh37
NC_000018.8:g.26923429C= NCBI36
NG_008208.2:g.17958G= , LRG_400:g.17958G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.172G= ENSP00000507826.1:p.Val58=
ENST00000251081.8:c.601G= ENSP00000251081.6:p.Val201=
ENST00000280904.11:c.601G= MANE Select ENSP00000280904.6:p.Val201=
ENST00000648081.1:c.172G= ENSP00000497441.1:p.Val58=
ENST00000251081.6:c.601G= ENSP00000251081.6:p.Val201=
ENST00000280904.10:c.601G= ENSP00000280904.6:p.Val201=
NM_004949.4:c.601G= NP_004940.1:p.Val201=
NM_024422.4:c.601G= NP_077740.1:p.Val201=
XM_005258206.3:c.172G= XP_005258263.1:p.Val58=
XM_005258206.4:c.172G= XP_005258263.1:p.Val58=
NM_004949.5:c.601G= NP_004940.1:p.Val201=
NM_024422.6:c.601G= MANE Select NP_077740.1:p.Val201=