Canonical Allele Identifier: CA629136612

Gene: DSC2

Linked Data

• dbSNP Id: rs1491579596
• gnomAD v2: 18-28669128-A-AG
• gnomAD v3: 18-31089165-A-AG
• gnomAD v4: 18-31089165-A-AG
• MyVariant Identifiers: chr18:g.28669128_28669129insG (hg19) ; chr18:g.31089165_31089166insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089165_31089166insG , CM000680.2:g.31089165_31089166insG	GRCh38
NC_000018.9:g.28669128_28669129insG , CM000680.1:g.28669128_28669129insG	GRCh37
NC_000018.8:g.26923126_26923127insG	NCBI36
NG_008208.2:g.18260_18261insC , LRG_400:g.18260_18261insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+273_201+274insC	ENSP00000507826.1:n.201+273_201+274insC
ENST00000251081.8:c.630+273_630+274insC	ENSP00000251081.6:n.630+273_630+274insC
ENST00000280904.11:c.630+273_630+274insC MANE Select	ENSP00000280904.6:n.630+273_630+274insC
ENST00000648081.1:c.201+273_201+274insC	ENSP00000497441.1:n.201+273_201+274insC
ENST00000251081.6:c.630+273_630+274insC	ENSP00000251081.6:n.630+273_630+274insC
ENST00000280904.10:c.630+273_630+274insC	ENSP00000280904.6:n.630+273_630+274insC
NM_004949.4:c.630+273_630+274insC	NP_004940.1:n.630+273_630+274insC
NM_024422.4:c.630+273_630+274insC	NP_077740.1:n.630+273_630+274insC
XM_005258206.3:c.201+273_201+274insC	XP_005258263.1:n.201+273_201+274insC
XM_005258206.4:c.201+273_201+274insC	XP_005258263.1:n.201+273_201+274insC
NM_004949.5:c.630+273_630+274insC	NP_004940.1:n.630+273_630+274insC
NM_024422.6:c.630+273_630+274insC MANE Select	NP_077740.1:n.630+273_630+274insC