Canonical Allele Identifier: CA2293645898

Gene: DSC2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31069036_31069038dup , CM000680.2:g.31069036_31069038dup	GRCh38
NC_000018.9:g.28649002_28649004dup , CM000680.1:g.28649002_28649004dup	GRCh37
NC_000018.8:g.26903000_26903002dup	NCBI36
NG_008208.2:g.38392_38394dup , LRG_400:g.38392_38394dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1939_1941dup	ENSP00000507826.1:p.Gly647_His648insGly
ENST00000251081.8:c.2368_2370dup	ENSP00000251081.6:p.Gly790_His791insGly
ENST00000280904.11:c.2368_2370dup MANE Select	ENSP00000280904.6:p.Gly790_His791insGly
ENST00000648081.1:c.1939_1941dup	ENSP00000497441.1:p.Gly647_His648insGly
ENST00000251081.6:c.2368_2370dup	ENSP00000251081.6:p.Gly790_His791insGly
ENST00000280904.10:c.2368_2370dup	ENSP00000280904.6:p.Gly790_His791insGly
NM_004949.4:c.2368_2370dup	NP_004940.1:p.Gly790_His791insGly
NM_024422.4:c.2368_2370dup	NP_077740.1:p.Gly790_His791insGly
XM_005258206.3:c.1939_1941dup	XP_005258263.1:p.Gly647_His648insGly
XM_005258206.4:c.1939_1941dup	XP_005258263.1:p.Gly647_His648insGly
NM_004949.5:c.2368_2370dup	NP_004940.1:p.Gly790_His791insGly
NM_024422.6:c.2368_2370dup MANE Select	NP_077740.1:p.Gly790_His791insGly