Canonical Allele Identifier: CA629140413

Gene: DSC2

Linked Data

• dbSNP Id: rs1194183117
• gnomAD v2: 18-28650665-ATTTAT-A
• gnomAD v4: 18-31070699-ATTTAT-A
• MyVariant Identifiers: chr18:g.28650666_28650670del (hg19) ; chr18:g.31070700_31070704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070702_31070706del , CM000680.2:g.31070702_31070706del	GRCh38
NC_000018.9:g.28650668_28650672del , CM000680.1:g.28650668_28650672del	GRCh37
NC_000018.8:g.26904666_26904670del	NCBI36
NG_008208.2:g.36722_36726del , LRG_400:g.36722_36726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1821+22_1821+26del	ENSP00000507826.1:n.1821+22_1821+26del
ENST00000251081.8:c.2250+22_2250+26del	ENSP00000251081.6:n.2250+22_2250+26del
ENST00000280904.11:c.2250+22_2250+26del MANE Select	ENSP00000280904.6:n.2250+22_2250+26del
ENST00000648081.1:c.1821+22_1821+26del	ENSP00000497441.1:n.1821+22_1821+26del
ENST00000251081.6:c.2250+22_2250+26del	ENSP00000251081.6:n.2250+22_2250+26del
ENST00000280904.10:c.2250+22_2250+26del	ENSP00000280904.6:n.2250+22_2250+26del
NM_004949.4:c.2250+22_2250+26del	NP_004940.1:n.2250+22_2250+26del
NM_024422.4:c.2250+22_2250+26del	NP_077740.1:n.2250+22_2250+26del
XM_005258206.3:c.1821+22_1821+26del	XP_005258263.1:n.1821+22_1821+26del
XM_005258206.4:c.1821+22_1821+26del	XP_005258263.1:n.1821+22_1821+26del
NM_004949.5:c.2250+22_2250+26del	NP_004940.1:n.2250+22_2250+26del
NM_024422.6:c.2250+22_2250+26del MANE Select	NP_077740.1:n.2250+22_2250+26del