Canonical Allele Identifier: CA2418366

Gene: CACNA2D2 CYB561D2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50366072T>C , CM000665.2:g.50366072T>C	GRCh38
NC_000003.11:g.50403503T>C , CM000665.1:g.50403503T>C	GRCh37
NC_000003.10:g.50378507T>C	NCBI36
NG_034070.1:g.143173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424201.7:c.2801A>G (CACNA2D2) MANE Select	ENSP00000390329.2:p.Gln934Arg
ENST00000266039.7:c.2801A>G (CACNA2D2)	ENSP00000266039.3:p.Gln934Arg
ENST00000360963.7:c.2594A>G (CACNA2D2)	ENSP00000354228.3:p.Gln865Arg
ENST00000423994.6:c.2825A>G (CACNA2D2)	ENSP00000407393.2:p.Gln942Arg
ENST00000424201.6:c.2801A>G (CACNA2D2)	ENSP00000390329.2:p.Gln934Arg
ENST00000429770.5:c.2804A>G (CACNA2D2)	ENSP00000404631.1:p.Gln935Arg
ENST00000479441.1:c.2822A>G (CACNA2D2)	ENSP00000418081.1:p.Gln941Arg
ENST00000606589.1:c.128-225T>C	ENSP00000476225.1:n.128-225T>C
NM_001005505.2:c.2801A>G (CACNA2D2)	NP_001005505.1:p.Gln934Arg
NM_001174051.2:c.2822A>G (CACNA2D2)	NP_001167522.1:p.Gln941Arg
NM_001291101.1:c.2594A>G (CACNA2D2)	NP_001278030.1:p.Gln865Arg
NM_006030.3:c.2801A>G (CACNA2D2)	NP_006021.2:p.Gln934Arg
NR_111912.1:n.443-225T>C (CYB561D2)
NR_111913.1:n.524+215T>C (CYB561D2)
NR_111914.1:n.506-225T>C (CYB561D2)
XM_005265581.3:c.2804A>G (CACNA2D2)	XP_005265638.1:p.Gln935Arg
XM_011534242.1:c.2825A>G (CACNA2D2)	XP_011532544.1:p.Gln942Arg
XM_011534243.1:c.2825A>G (CACNA2D2)	XP_011532545.1:p.Gln942Arg
XM_011534244.1:c.2804A>G (CACNA2D2)	XP_011532546.1:p.Gln935Arg
XM_005265581.4:c.2804A>G (CACNA2D2)	XP_005265638.1:p.Gln935Arg
XM_011534243.2:c.2825A>G (CACNA2D2)	XP_011532545.1:p.Gln942Arg
NM_001005505.3:c.2801A>G (CACNA2D2)	NP_001005505.1:p.Gln934Arg
NM_001174051.3:c.2822A>G (CACNA2D2)	NP_001167522.1:p.Gln941Arg
NM_006030.4:c.2801A>G (CACNA2D2) MANE Select	NP_006021.2:p.Gln934Arg
NR_111912.2:n.276-225T>C (CYB561D2)
NR_111913.2:n.495+215T>C (CYB561D2)
NR_111914.2:n.477-225T>C (CYB561D2)