Canonical Allele Identifier: CA2512703

Gene: DCBLD2

Linked Data

• dbSNP Id: rs779664429
• ExAC: 3:98600397 G / C
• gnomAD v2: 3-98600397-G-C
• gnomAD v4: 3-98881553-G-C
• MyVariant Identifiers: chr3:g.98600397G>C (hg19) ; chr3:g.98881553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881553G>C , CM000665.2:g.98881553G>C	GRCh38
NC_000003.11:g.98600397G>C , CM000665.1:g.98600397G>C	GRCh37
NC_000003.10:g.100083087G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.420C>G MANE Select	ENSP00000321573.6:p.Ser140Arg
ENST00000326840.10:c.420C>G	ENSP00000321573.6:p.Ser140Arg
ENST00000326857.9:c.420C>G	ENSP00000321646.9:p.Ser140Arg
ENST00000449482.1:c.102C>G	ENSP00000396803.1:p.Ser34Arg
ENST00000469648.5:n.268+19169C>G
ENST00000486004.1:n.398C>G
NM_080927.3:c.420C>G	NP_563615.3:p.Ser140Arg
XM_011512419.1:c.205+19569C>G	XP_011510721.1:n.205+19569C>G
XM_011512419.2:c.205+19569C>G	XP_011510721.1:n.205+19569C>G
XM_024453347.1:c.102C>G	XP_024309115.1:p.Ser34Arg
XM_024453348.1:c.102C>G	XP_024309116.1:p.Ser34Arg
NM_080927.4:c.420C>G MANE Select	NP_563615.3:p.Ser140Arg