Canonical Allele Identifier: CA402112140

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31086665T>C , CM000680.2:g.31086665T>C	GRCh38
NC_000018.9:g.28666628T>C , CM000680.1:g.28666628T>C	GRCh37
NC_000018.8:g.26920626T>C	NCBI36
NG_008208.2:g.20761A>G , LRG_400:g.20761A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.853A>G MANE Select	NP_077740.1:p.Ile285Val
ENST00000280904.11:c.853A>G MANE Select	ENSP00000280904.6:p.Ile285Val
NM_004949.4:c.853A>G	NP_004940.1:p.Ile285Val
NM_004949.5:c.853A>G	NP_004940.1:p.Ile285Val
NM_024422.4:c.853A>G	NP_077740.1:p.Ile285Val
ENST00000251081.6:c.853A>G	ENSP00000251081.6:p.Ile285Val
ENST00000251081.8:c.853A>G	ENSP00000251081.6:p.Ile285Val
ENST00000280904.10:c.853A>G	ENSP00000280904.6:p.Ile285Val
ENST00000648081.1:c.424A>G	ENSP00000497441.1:p.Ile142Val
ENST00000682357.1:c.424A>G	ENSP00000507826.1:p.Ile142Val
XM_005258206.3:c.424A>G	XP_005258263.1:p.Ile142Val
XM_005258206.4:c.424A>G	XP_005258263.1:p.Ile142Val