Canonical Allele Identifier: CA402112418

Gene: DSC2

Linked Data

• MyVariant Identifiers: chr18:g.28650730T>A (hg19) ; chr18:g.31070764T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070764T>A , CM000680.2:g.31070764T>A	GRCh38
NC_000018.9:g.28650730T>A , CM000680.1:g.28650730T>A	GRCh37
NC_000018.8:g.26904728T>A	NCBI36
NG_008208.2:g.36662A>T , LRG_400:g.36662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1783A>T	ENSP00000507826.1:p.Ile595Phe
ENST00000251081.8:c.2212A>T	ENSP00000251081.6:p.Ile738Phe
ENST00000280904.11:c.2212A>T MANE Select	ENSP00000280904.6:p.Ile738Phe
ENST00000648081.1:c.1783A>T	ENSP00000497441.1:p.Ile595Phe
ENST00000251081.6:c.2212A>T	ENSP00000251081.6:p.Ile738Phe
ENST00000280904.10:c.2212A>T	ENSP00000280904.6:p.Ile738Phe
NM_004949.4:c.2212A>T	NP_004940.1:p.Ile738Phe
NM_024422.4:c.2212A>T	NP_077740.1:p.Ile738Phe
XM_005258206.3:c.1783A>T	XP_005258263.1:p.Ile595Phe
XM_005258206.4:c.1783A>T	XP_005258263.1:p.Ile595Phe
NM_004949.5:c.2212A>T	NP_004940.1:p.Ile738Phe
NM_024422.6:c.2212A>T MANE Select	NP_077740.1:p.Ile738Phe