Canonical Allele Identifier: CA022885

Gene: DSC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31087781A>T , CM000680.2:g.31087781A>T	GRCh38
NC_000018.9:g.28667744A>T , CM000680.1:g.28667744A>T	GRCh37
NC_000018.8:g.26921742A>T	NCBI36
NG_008208.2:g.19645T>A , LRG_400:g.19645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.234T>A	ENSP00000507826.1:p.Tyr78Ter
ENST00000251081.8:c.663T>A	ENSP00000251081.6:p.Tyr221Ter
ENST00000280904.11:c.663T>A MANE Select	ENSP00000280904.6:p.Tyr221Ter
ENST00000648081.1:c.234T>A	ENSP00000497441.1:p.Tyr78Ter
ENST00000251081.6:c.663T>A	ENSP00000251081.6:p.Tyr221Ter
ENST00000280904.10:c.663T>A	ENSP00000280904.6:p.Tyr221Ter
NM_004949.4:c.663T>A	NP_004940.1:p.Tyr221Ter
NM_024422.4:c.663T>A	NP_077740.1:p.Tyr221Ter
XM_005258206.3:c.234T>A	XP_005258263.1:p.Tyr78Ter
XM_005258206.4:c.234T>A	XP_005258263.1:p.Tyr78Ter
NM_004949.5:c.663T>A	NP_004940.1:p.Tyr221Ter
NM_024422.6:c.663T>A MANE Select	NP_077740.1:p.Tyr221Ter