Canonical Allele Identifier: CA130795

Gene: CACNA2D2 CYB561D2

Linked Data

• ClinVar Variation Id: 40230
• ClinVar RCV Id: RCV001804159
• dbSNP Id: rs587776948
• MyVariant Identifiers: chr3:g.50402595A>G (hg19) ; chr3:g.50365164A>G (hg38)
• PubMed: PMID:18487195 ; PMID:23339110

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50365164A>G , CM000665.2:g.50365164A>G	GRCh38
NC_000003.11:g.50402595A>G , CM000665.1:g.50402595A>G	GRCh37
NC_000003.10:g.50377599A>G	NCBI36
NG_034070.1:g.144081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424201.7:c.3119T>C (CACNA2D2) MANE Select	ENSP00000390329.2:p.Leu1040Pro
ENST00000266039.7:c.3119T>C (CACNA2D2)	ENSP00000266039.3:p.Leu1040Pro
ENST00000360963.7:c.2912T>C (CACNA2D2)	ENSP00000354228.3:p.Leu971Pro
ENST00000423994.6:c.3143T>C (CACNA2D2)	ENSP00000407393.2:p.Leu1048Pro
ENST00000424201.6:c.3119T>C (CACNA2D2)	ENSP00000390329.2:p.Leu1040Pro
ENST00000429770.5:c.3122T>C (CACNA2D2)	ENSP00000404631.1:p.Leu1041Pro
ENST00000479441.1:c.3140T>C (CACNA2D2)	ENSP00000418081.1:p.Leu1047Pro
ENST00000483620.1:n.298T>C (CACNA2D2)
ENST00000606589.1:c.128-1133A>G	ENSP00000476225.1:n.128-1133A>G
NM_001005505.2:c.3119T>C (CACNA2D2)	NP_001005505.1:p.Leu1040Pro
NM_001174051.2:c.3140T>C (CACNA2D2)	NP_001167522.1:p.Leu1047Pro
NM_001291101.1:c.2912T>C (CACNA2D2)	NP_001278030.1:p.Leu971Pro
NM_006030.3:c.3119T>C (CACNA2D2)	NP_006021.2:p.Leu1040Pro
NR_111912.1:n.443-1133A>G (CYB561D2)
XM_005265581.3:c.3122T>C (CACNA2D2)	XP_005265638.1:p.Leu1041Pro
XM_011534242.1:c.3143T>C (CACNA2D2)	XP_011532544.1:p.Leu1048Pro
XM_011534243.1:c.3143T>C (CACNA2D2)	XP_011532545.1:p.Leu1048Pro
XM_011534244.1:c.3122T>C (CACNA2D2)	XP_011532546.1:p.Leu1041Pro
XM_005265581.4:c.3122T>C (CACNA2D2)	XP_005265638.1:p.Leu1041Pro
XM_011534243.2:c.3143T>C (CACNA2D2)	XP_011532545.1:p.Leu1048Pro
NM_001005505.3:c.3119T>C (CACNA2D2)	NP_001005505.1:p.Leu1040Pro
NM_001174051.3:c.3140T>C (CACNA2D2)	NP_001167522.1:p.Leu1047Pro
NM_006030.4:c.3119T>C (CACNA2D2) MANE Select	NP_006021.2:p.Leu1040Pro
NR_111912.2:n.276-1133A>G (CYB561D2)