Canonical Allele Identifier: CA402110582

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31068145T>A , CM000680.2:g.31068145T>A	GRCh38
NC_000018.9:g.28648111T>A , CM000680.1:g.28648111T>A	GRCh37
NC_000018.8:g.26902109T>A	NCBI36
NG_008208.2:g.39281A>T , LRG_400:g.39281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.2147A>T	ENSP00000507826.1:p.Tyr716Phe
ENST00000251081.8:c.*78A>T	ENSP00000251081.6:n.*78A>T
ENST00000280904.11:c.2576A>T MANE Select	ENSP00000280904.6:p.Tyr859Phe
ENST00000648081.1:c.2147A>T	ENSP00000497441.1:p.Tyr716Phe
ENST00000251081.6:c.*78A>T	ENSP00000251081.6:n.*78A>T
ENST00000280904.10:c.2576A>T	ENSP00000280904.6:p.Tyr859Phe
NM_004949.4:c.*78A>T	NP_004940.1:n.*78A>T
NM_024422.4:c.2576A>T	NP_077740.1:p.Tyr859Phe
XM_005258206.3:c.2147A>T	XP_005258263.1:p.Tyr716Phe
XM_005258206.4:c.2147A>T	XP_005258263.1:p.Tyr716Phe
NM_004949.5:c.*78A>T	NP_004940.1:n.*78A>T
NM_024422.6:c.2576A>T MANE Select	NP_077740.1:p.Tyr859Phe