Canonical Allele Identifier: CA353626691

Gene: DCBLD2

Linked Data

• dbSNP Id: rs1245738841
• gnomAD v2: 3-98600395-C-T
• gnomAD v3: 3-98881551-C-T
• gnomAD v4: 3-98881551-C-T
• MyVariant Identifiers: chr3:g.98600395C>T (hg19) ; chr3:g.98881551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881551C>T , CM000665.2:g.98881551C>T	GRCh38
NC_000003.11:g.98600395C>T , CM000665.1:g.98600395C>T	GRCh37
NC_000003.10:g.100083085C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.422G>A MANE Select	ENSP00000321573.6:p.Arg141Lys
ENST00000326840.10:c.422G>A	ENSP00000321573.6:p.Arg141Lys
ENST00000326857.9:c.422G>A	ENSP00000321646.9:p.Arg141Lys
ENST00000449482.1:c.104G>A	ENSP00000396803.1:p.Arg35Lys
ENST00000469648.5:n.268+19171G>A
ENST00000486004.1:n.400G>A
NM_080927.3:c.422G>A	NP_563615.3:p.Arg141Lys
XM_011512419.1:c.205+19571G>A	XP_011510721.1:n.205+19571G>A
XM_011512419.2:c.205+19571G>A	XP_011510721.1:n.205+19571G>A
XM_024453347.1:c.104G>A	XP_024309115.1:p.Arg35Lys
XM_024453348.1:c.104G>A	XP_024309116.1:p.Arg35Lys
NM_080927.4:c.422G>A MANE Select	NP_563615.3:p.Arg141Lys