Canonical Allele Identifier: CA988889734

Gene: DSC2

Linked Data

• dbSNP Id: rs796836744
• gnomAD v3: 18-31067250-T-TAAAA
• gnomAD v4: 18-31067250-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067263_31067266dup , CM000680.2:g.31067263_31067266dup	GRCh38
NC_000018.9:g.28647229_28647232dup , CM000680.1:g.28647229_28647232dup	GRCh37
NC_000018.8:g.26901227_26901230dup	NCBI36
NG_008208.2:g.40172_40175dup , LRG_400:g.40172_40175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*761_*764dup	ENSP00000507826.1:n.*761_*764dup
ENST00000251081.8:c.*969_*972dup	ENSP00000251081.6:n.*969_*972dup
ENST00000280904.11:c.*761_*764dup MANE Select	ENSP00000280904.6:n.*761_*764dup
ENST00000648081.1:c.*761_*764dup	ENSP00000497441.1:n.*761_*764dup
ENST00000251081.6:c.*969_*972dup	ENSP00000251081.6:n.*969_*972dup
ENST00000280904.10:c.*761_*764dup	ENSP00000280904.6:n.*761_*764dup
NM_004949.4:c.*969_*972dup	NP_004940.1:n.*969_*972dup
NM_024422.4:c.*761_*764dup	NP_077740.1:n.*761_*764dup
XM_005258206.3:c.*761_*764dup	XP_005258263.1:n.*761_*764dup
XM_005258206.4:c.*761_*764dup	XP_005258263.1:n.*761_*764dup
NM_004949.5:c.*969_*972dup	NP_004940.1:n.*969_*972dup
NM_024422.6:c.*761_*764dup MANE Select	NP_077740.1:n.*761_*764dup