Canonical Allele Identifier: CA988889913

Gene: DSC2

Linked Data

• dbSNP Id: rs768405529
• gnomAD v3: 18-31089164-C-CAAAAAA
• gnomAD v4: 18-31089164-C-CAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089178_31089183dup , CM000680.2:g.31089178_31089183dup	GRCh38
NC_000018.9:g.28669141_28669146dup , CM000680.1:g.28669141_28669146dup	GRCh37
NC_000018.8:g.26923139_26923144dup	NCBI36
NG_008208.2:g.18256_18261dup , LRG_400:g.18256_18261dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+269_201+274dup	ENSP00000507826.1:n.201+269_201+274dup
ENST00000251081.8:c.630+269_630+274dup	ENSP00000251081.6:n.630+269_630+274dup
ENST00000280904.11:c.630+269_630+274dup MANE Select	ENSP00000280904.6:n.630+269_630+274dup
ENST00000648081.1:c.201+269_201+274dup	ENSP00000497441.1:n.201+269_201+274dup
ENST00000251081.6:c.630+269_630+274dup	ENSP00000251081.6:n.630+269_630+274dup
ENST00000280904.10:c.630+269_630+274dup	ENSP00000280904.6:n.630+269_630+274dup
NM_004949.4:c.630+269_630+274dup	NP_004940.1:n.630+269_630+274dup
NM_024422.4:c.630+269_630+274dup	NP_077740.1:n.630+269_630+274dup
XM_005258206.3:c.201+269_201+274dup	XP_005258263.1:n.201+269_201+274dup
XM_005258206.4:c.201+269_201+274dup	XP_005258263.1:n.201+269_201+274dup
NM_004949.5:c.630+269_630+274dup	NP_004940.1:n.630+269_630+274dup
NM_024422.6:c.630+269_630+274dup MANE Select	NP_077740.1:n.630+269_630+274dup