Canonical Allele Identifier: CA038275

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31091107C>T , CM000680.2:g.31091107C>T	GRCh38
NC_000018.9:g.28671070C>T , CM000680.1:g.28671070C>T	GRCh37
NC_000018.8:g.26925068C>T	NCBI36
NG_008208.2:g.16319G>A , LRG_400:g.16319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.-35G>A	ENSP00000507826.1:n.-35G>A
ENST00000251081.8:c.395G>A	ENSP00000251081.6:p.Arg132His
ENST00000280904.11:c.395G>A MANE Select	ENSP00000280904.6:p.Arg132His
ENST00000648081.1:c.-35G>A	ENSP00000497441.1:n.-35G>A
ENST00000251081.6:c.395G>A	ENSP00000251081.6:p.Arg132His
ENST00000280904.10:c.395G>A	ENSP00000280904.6:p.Arg132His
NM_004949.4:c.395G>A	NP_004940.1:p.Arg132His
NM_024422.4:c.395G>A	NP_077740.1:p.Arg132His
XM_005258206.3:c.-35G>A	XP_005258263.1:n.-35G>A
XM_005258206.4:c.-35G>A	XP_005258263.1:n.-35G>A
NM_004949.5:c.395G>A	NP_004940.1:p.Arg132His
NM_024422.6:c.395G>A MANE Select	NP_077740.1:p.Arg132His