Canonical Allele Identifier: CA778399225

Gene: DSC2

Linked Data

• dbSNP Id: rs1555639870
• gnomAD v3: 18-31089174-A-AAC
• gnomAD v4: 18-31089174-A-AAC
• MyVariant Identifiers: chr18:g.28669137_28669138insAC (hg19) ; chr18:g.31089174_31089175insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089175_31089176insCA , CM000680.2:g.31089175_31089176insCA	GRCh38
NC_000018.9:g.28669138_28669139insCA , CM000680.1:g.28669138_28669139insCA	GRCh37
NC_000018.8:g.26923136_26923137insCA	NCBI36
NG_008208.2:g.18251_18252insGT , LRG_400:g.18251_18252insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+264_201+265insGT	ENSP00000507826.1:n.201+264_201+265insGT
ENST00000251081.8:c.630+264_630+265insGT	ENSP00000251081.6:n.630+264_630+265insGT
ENST00000280904.11:c.630+264_630+265insGT MANE Select	ENSP00000280904.6:n.630+264_630+265insGT
ENST00000648081.1:c.201+264_201+265insGT	ENSP00000497441.1:n.201+264_201+265insGT
ENST00000251081.6:c.630+264_630+265insGT	ENSP00000251081.6:n.630+264_630+265insGT
ENST00000280904.10:c.630+264_630+265insGT	ENSP00000280904.6:n.630+264_630+265insGT
NM_004949.4:c.630+264_630+265insGT	NP_004940.1:n.630+264_630+265insGT
NM_024422.4:c.630+264_630+265insGT	NP_077740.1:n.630+264_630+265insGT
XM_005258206.3:c.201+264_201+265insGT	XP_005258263.1:n.201+264_201+265insGT
XM_005258206.4:c.201+264_201+265insGT	XP_005258263.1:n.201+264_201+265insGT
NM_004949.5:c.630+264_630+265insGT	NP_004940.1:n.630+264_630+265insGT
NM_024422.6:c.630+264_630+265insGT MANE Select	NP_077740.1:n.630+264_630+265insGT