Canonical Allele Identifier: CA503388551

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31086672G>A , CM000680.2:g.31086672G>A	GRCh38
NC_000018.9:g.28666635G>A , CM000680.1:g.28666635G>A	GRCh37
NC_000018.8:g.26920633G>A	NCBI36
NG_008208.2:g.20754C>T , LRG_400:g.20754C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024422.6:c.846C>T MANE Select	NP_077740.1:p.Tyr282=
ENST00000280904.11:c.846C>T MANE Select	ENSP00000280904.6:p.Tyr282=
NM_004949.4:c.846C>T	NP_004940.1:p.Tyr282=
NM_004949.5:c.846C>T	NP_004940.1:p.Tyr282=
NM_024422.4:c.846C>T	NP_077740.1:p.Tyr282=
ENST00000251081.6:c.846C>T	ENSP00000251081.6:p.Tyr282=
ENST00000251081.8:c.846C>T	ENSP00000251081.6:p.Tyr282=
ENST00000280904.10:c.846C>T	ENSP00000280904.6:p.Tyr282=
ENST00000648081.1:c.417C>T	ENSP00000497441.1:p.Tyr139=
ENST00000682357.1:c.417C>T	ENSP00000507826.1:p.Tyr139=
XM_005258206.3:c.417C>T	XP_005258263.1:p.Tyr139=
XM_005258206.4:c.417C>T	XP_005258263.1:p.Tyr139=