Canonical Allele Identifier: CA402114754

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31092187C>A , CM000680.2:g.31092187C>A	GRCh38
NC_000018.9:g.28672150C>A , CM000680.1:g.28672150C>A	GRCh37
NC_000018.8:g.26926148C>A	NCBI36
NG_008208.2:g.15239G>T , LRG_400:g.15239G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.268G>T MANE Select	NP_077740.1:p.Glu90Ter
ENST00000280904.11:c.268G>T MANE Select	ENSP00000280904.6:p.Glu90Ter
NM_004949.4:c.268G>T	NP_004940.1:p.Glu90Ter
NM_004949.5:c.268G>T	NP_004940.1:p.Glu90Ter
NM_024422.4:c.268G>T	NP_077740.1:p.Glu90Ter
ENST00000251081.6:c.268G>T	ENSP00000251081.6:p.Glu90Ter
ENST00000251081.8:c.268G>T	ENSP00000251081.6:p.Glu90Ter
ENST00000280904.10:c.268G>T	ENSP00000280904.6:p.Glu90Ter
ENST00000648081.1:c.-199G>T	ENSP00000497441.1:n.-199G>T
ENST00000682357.1:c.-162G>T	ENSP00000507826.1:n.-162G>T
XM_005258206.3:c.-162G>T	XP_005258263.1:n.-162G>T
XM_005258206.4:c.-162G>T	XP_005258263.1:n.-162G>T