Canonical Allele Identifier: CA353626673

Gene: DCBLD2

Linked Data

• MyVariant Identifiers: chr3:g.98600387T>G (hg19) ; chr3:g.98881543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881543T>G , CM000665.2:g.98881543T>G	GRCh38
NC_000003.11:g.98600387T>G , CM000665.1:g.98600387T>G	GRCh37
NC_000003.10:g.100083077T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326840.11:c.430A>C MANE Select	ENSP00000321573.6:p.Ile144Leu
ENST00000326840.10:c.430A>C	ENSP00000321573.6:p.Ile144Leu
ENST00000326857.9:c.430A>C	ENSP00000321646.9:p.Ile144Leu
ENST00000449482.1:c.112A>C	ENSP00000396803.1:p.Ile38Leu
ENST00000469648.5:n.268+19179A>C
ENST00000486004.1:n.408A>C
NM_080927.3:c.430A>C	NP_563615.3:p.Ile144Leu
XM_011512419.1:c.205+19579A>C	XP_011510721.1:n.205+19579A>C
XM_011512419.2:c.205+19579A>C	XP_011510721.1:n.205+19579A>C
XM_024453347.1:c.112A>C	XP_024309115.1:p.Ile38Leu
XM_024453348.1:c.112A>C	XP_024309116.1:p.Ile38Leu
NM_080927.4:c.430A>C MANE Select	NP_563615.3:p.Ile144Leu