Canonical Allele Identifier: CA2293654771

Gene: DSC2

Linked Data

• dbSNP Id: rs1987501787

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089164_31089165insGA , CM000680.2:g.31089164_31089165insGA	GRCh38
NC_000018.9:g.28669127_28669128insGA , CM000680.1:g.28669127_28669128insGA	GRCh37
NC_000018.8:g.26923125_26923126insGA	NCBI36
NG_008208.2:g.18261_18262insTC , LRG_400:g.18261_18262insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+274_201+275insTC	ENSP00000507826.1:n.201+274_201+275insTC
ENST00000251081.8:c.630+274_630+275insTC	ENSP00000251081.6:n.630+274_630+275insTC
ENST00000280904.11:c.630+274_630+275insTC MANE Select	ENSP00000280904.6:n.630+274_630+275insTC
ENST00000648081.1:c.201+274_201+275insTC	ENSP00000497441.1:n.201+274_201+275insTC
ENST00000251081.6:c.630+274_630+275insTC	ENSP00000251081.6:n.630+274_630+275insTC
ENST00000280904.10:c.630+274_630+275insTC	ENSP00000280904.6:n.630+274_630+275insTC
NM_004949.4:c.630+274_630+275insTC	NP_004940.1:n.630+274_630+275insTC
NM_024422.4:c.630+274_630+275insTC	NP_077740.1:n.630+274_630+275insTC
XM_005258206.3:c.201+274_201+275insTC	XP_005258263.1:n.201+274_201+275insTC
XM_005258206.4:c.201+274_201+275insTC	XP_005258263.1:n.201+274_201+275insTC
NM_004949.5:c.630+274_630+275insTC	NP_004940.1:n.630+274_630+275insTC
NM_024422.6:c.630+274_630+275insTC MANE Select	NP_077740.1:n.630+274_630+275insTC