Canonical Allele Identifier: CA2580095617

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31091023G>C , CM000680.2:g.31091023G>C	GRCh38
NC_000018.9:g.28670986G>C , CM000680.1:g.28670986G>C	GRCh37
NC_000018.8:g.26924984G>C	NCBI36
NG_008208.2:g.16403C>G , LRG_400:g.16403C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.474+5C>G MANE Select	NP_077740.1:n.474+5C>G
ENST00000280904.11:c.474+5C>G MANE Select	ENSP00000280904.6:n.474+5C>G
NM_004949.4:c.474+5C>G	NP_004940.1:n.474+5C>G
NM_004949.5:c.474+5C>G	NP_004940.1:n.474+5C>G
NM_024422.4:c.474+5C>G	NP_077740.1:n.474+5C>G
ENST00000251081.6:c.474+5C>G	ENSP00000251081.6:n.474+5C>G
ENST00000251081.8:c.474+5C>G	ENSP00000251081.6:n.474+5C>G
ENST00000280904.10:c.474+5C>G	ENSP00000280904.6:n.474+5C>G
ENST00000648081.1:c.45+5C>G	ENSP00000497441.1:n.45+5C>G
ENST00000682357.1:c.45+5C>G	ENSP00000507826.1:n.45+5C>G
XM_005258206.3:c.45+5C>G	XP_005258263.1:n.45+5C>G
XM_005258206.4:c.45+5C>G	XP_005258263.1:n.45+5C>G