Canonical Allele Identifier: CA629140100

Gene: DSC2

Linked Data

• dbSNP Id: rs796836744
• gnomAD v2: 18-28647216-T-TAA
• gnomAD v3: 18-31067250-T-TAA
• gnomAD v4: 18-31067250-T-TAA
• MyVariant Identifiers: chr18:g.28647218_28647219insAA (hg19) ; chr18:g.28647216_28647217insAA (hg19) ; chr18:g.31067252_31067253insAA (hg38) ; chr18:g.31067250_31067251insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067265_31067266dup , CM000680.2:g.31067265_31067266dup	GRCh38
NC_000018.9:g.28647231_28647232dup , CM000680.1:g.28647231_28647232dup	GRCh37
NC_000018.8:g.26901229_26901230dup	NCBI36
NG_008208.2:g.40174_40175dup , LRG_400:g.40174_40175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*763_*764dup	ENSP00000507826.1:n.*763_*764dup
ENST00000251081.8:c.*971_*972dup	ENSP00000251081.6:n.*971_*972dup
ENST00000280904.11:c.*763_*764dup MANE Select	ENSP00000280904.6:n.*763_*764dup
ENST00000648081.1:c.*763_*764dup	ENSP00000497441.1:n.*763_*764dup
ENST00000251081.6:c.*971_*972dup	ENSP00000251081.6:n.*971_*972dup
ENST00000280904.10:c.*763_*764dup	ENSP00000280904.6:n.*763_*764dup
NM_004949.4:c.*971_*972dup	NP_004940.1:n.*971_*972dup
NM_024422.4:c.*763_*764dup	NP_077740.1:n.*763_*764dup
XM_005258206.3:c.*763_*764dup	XP_005258263.1:n.*763_*764dup
XM_005258206.4:c.*763_*764dup	XP_005258263.1:n.*763_*764dup
NM_004949.5:c.*971_*972dup	NP_004940.1:n.*971_*972dup
NM_024422.6:c.*763_*764dup MANE Select	NP_077740.1:n.*763_*764dup