Canonical Allele Identifier: CA353626715

Gene: DCBLD2

Linked Data

• gnomAD v4: 3-98881563-A-G
• MyVariant Identifiers: chr3:g.98600407A>G (hg19) ; chr3:g.98881563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881563A>G , CM000665.2:g.98881563A>G	GRCh38
NC_000003.11:g.98600407A>G , CM000665.1:g.98600407A>G	GRCh37
NC_000003.10:g.100083097A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.410T>C MANE Select	ENSP00000321573.6:p.Ile137Thr
ENST00000326840.10:c.410T>C	ENSP00000321573.6:p.Ile137Thr
ENST00000326857.9:c.410T>C	ENSP00000321646.9:p.Ile137Thr
ENST00000449482.1:c.92T>C	ENSP00000396803.1:p.Ile31Thr
ENST00000469648.5:n.268+19159T>C
ENST00000486004.1:n.388T>C
NM_080927.3:c.410T>C	NP_563615.3:p.Ile137Thr
XM_011512419.1:c.205+19559T>C	XP_011510721.1:n.205+19559T>C
XM_011512419.2:c.205+19559T>C	XP_011510721.1:n.205+19559T>C
XM_024453347.1:c.92T>C	XP_024309115.1:p.Ile31Thr
XM_024453348.1:c.92T>C	XP_024309116.1:p.Ile31Thr
NM_080927.4:c.410T>C MANE Select	NP_563615.3:p.Ile137Thr