Canonical Allele Identifier: CA352961012

Gene: CACNA2D2 CYB561D2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50364736A>C , CM000665.2:g.50364736A>C	GRCh38
NC_000003.11:g.50402167A>C , CM000665.1:g.50402167A>C	GRCh37
NC_000003.10:g.50377171A>C	NCBI36
NG_034070.1:g.144509T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006030.4:c.3362T>G (CACNA2D2) MANE Select	NP_006021.2:p.Leu1121Arg
ENST00000424201.7:c.3362T>G (CACNA2D2) MANE Select	ENSP00000390329.2:p.Leu1121Arg
NM_001005505.2:c.3368T>G (CACNA2D2)	NP_001005505.1:p.Leu1123Arg
NM_001005505.3:c.3368T>G (CACNA2D2)	NP_001005505.1:p.Leu1123Arg
NM_001174051.2:c.3383T>G (CACNA2D2)	NP_001167522.1:p.Leu1128Arg
NM_001174051.3:c.3383T>G (CACNA2D2)	NP_001167522.1:p.Leu1128Arg
NM_001291101.1:c.3161T>G (CACNA2D2)	NP_001278030.1:p.Leu1054Arg
NM_006030.3:c.3362T>G (CACNA2D2)	NP_006021.2:p.Leu1121Arg
NR_111912.1:n.443-1561A>C (CYB561D2)
NR_111912.2:n.276-1561A>C (CYB561D2)
ENST00000266039.7:c.3368T>G (CACNA2D2)	ENSP00000266039.3:p.Leu1123Arg
ENST00000360963.7:c.3161T>G (CACNA2D2)	ENSP00000354228.3:p.Leu1054Arg
ENST00000423994.6:c.3392T>G (CACNA2D2)	ENSP00000407393.2:p.Leu1131Arg
ENST00000424201.6:c.3362T>G (CACNA2D2)	ENSP00000390329.2:p.Leu1121Arg
ENST00000429770.5:c.3365T>G (CACNA2D2)	ENSP00000404631.1:p.Leu1122Arg
ENST00000479441.1:c.3383T>G (CACNA2D2)	ENSP00000418081.1:p.Leu1128Arg
ENST00000483620.1:n.645T>G (CACNA2D2)
ENST00000606589.1:c.128-1561A>C	ENSP00000476225.1:n.128-1561A>C
XM_005265581.3:c.3365T>G (CACNA2D2)	XP_005265638.1:p.Leu1122Arg
XM_005265581.4:c.3365T>G (CACNA2D2)	XP_005265638.1:p.Leu1122Arg
XM_011534242.1:c.3392T>G (CACNA2D2)	XP_011532544.1:p.Leu1131Arg
XM_011534243.1:c.3386T>G (CACNA2D2)	XP_011532545.1:p.Leu1129Arg
XM_011534243.2:c.3386T>G (CACNA2D2)	XP_011532545.1:p.Leu1129Arg
XM_011534244.1:c.3371T>G (CACNA2D2)	XP_011532546.1:p.Leu1124Arg