Canonical Allele Identifier: CA434867097

Gene: DCBLD2

Linked Data

• dbSNP Id: rs370431447
• gnomAD v2: 3-98600400-G-A
• gnomAD v3: 3-98881556-G-A
• gnomAD v4: 3-98881556-G-A
• MyVariant Identifiers: chr3:g.98600400G>A (hg19) ; chr3:g.98881556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881556G>A , CM000665.2:g.98881556G>A	GRCh38
NC_000003.11:g.98600400G>A , CM000665.1:g.98600400G>A	GRCh37
NC_000003.10:g.100083090G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326840.11:c.417C>T MANE Select	ENSP00000321573.6:p.Val139=
ENST00000326840.10:c.417C>T	ENSP00000321573.6:p.Val139=
ENST00000326857.9:c.417C>T	ENSP00000321646.9:p.Val139=
ENST00000449482.1:c.99C>T	ENSP00000396803.1:p.Val33=
ENST00000469648.5:n.268+19166C>T
ENST00000486004.1:n.395C>T
NM_080927.3:c.417C>T	NP_563615.3:p.Val139=
XM_011512419.1:c.205+19566C>T	XP_011510721.1:n.205+19566C>T
XM_011512419.2:c.205+19566C>T	XP_011510721.1:n.205+19566C>T
XM_024453347.1:c.99C>T	XP_024309115.1:p.Val33=
XM_024453348.1:c.99C>T	XP_024309116.1:p.Val33=
NM_080927.4:c.417C>T MANE Select	NP_563615.3:p.Val139=