Canonical Allele Identifier: CA402114350

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31074864G>C , CM000680.2:g.31074864G>C	GRCh38
NC_000018.9:g.28654830G>C , CM000680.1:g.28654830G>C	GRCh37
NC_000018.8:g.26908828G>C	NCBI36
NG_008208.2:g.32562C>G , LRG_400:g.32562C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1278C>G	ENSP00000507826.1:p.Asp426Glu
ENST00000251081.8:c.1707C>G	ENSP00000251081.6:p.Asp569Glu
ENST00000280904.11:c.1707C>G MANE Select	ENSP00000280904.6:p.Asp569Glu
ENST00000648081.1:c.1278C>G	ENSP00000497441.1:p.Asp426Glu
ENST00000251081.6:c.1707C>G	ENSP00000251081.6:p.Asp569Glu
ENST00000280904.10:c.1707C>G	ENSP00000280904.6:p.Asp569Glu
NM_004949.4:c.1707C>G	NP_004940.1:p.Asp569Glu
NM_024422.4:c.1707C>G	NP_077740.1:p.Asp569Glu
XM_005258206.3:c.1278C>G	XP_005258263.1:p.Asp426Glu
XM_005258206.4:c.1278C>G	XP_005258263.1:p.Asp426Glu
NM_004949.5:c.1707C>G	NP_004940.1:p.Asp569Glu
NM_024422.6:c.1707C>G MANE Select	NP_077740.1:p.Asp569Glu