Canonical Allele Identifier: CA543054076

Gene: CACNA2D2 CYB561D2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50365065G>A , CM000665.2:g.50365065G>A	GRCh38
NC_000003.11:g.50402496G>A , CM000665.1:g.50402496G>A	GRCh37
NC_000003.10:g.50377500G>A	NCBI36
NG_034070.1:g.144180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424201.7:c.3208+10C>T (CACNA2D2) MANE Select	ENSP00000390329.2:n.3208+10C>T
ENST00000266039.7:c.3208+10C>T (CACNA2D2)	ENSP00000266039.3:n.3208+10C>T
ENST00000360963.7:c.3001+10C>T (CACNA2D2)	ENSP00000354228.3:n.3001+10C>T
ENST00000423994.6:c.3232+10C>T (CACNA2D2)	ENSP00000407393.2:n.3232+10C>T
ENST00000424201.6:c.3208+10C>T (CACNA2D2)	ENSP00000390329.2:n.3208+10C>T
ENST00000429770.5:c.3211+10C>T (CACNA2D2)	ENSP00000404631.1:n.3211+10C>T
ENST00000479441.1:c.3229+10C>T (CACNA2D2)	ENSP00000418081.1:n.3229+10C>T
ENST00000483620.1:n.397C>T (CACNA2D2)
ENST00000606589.1:c.128-1232G>A	ENSP00000476225.1:n.128-1232G>A
NM_001005505.2:c.3208+10C>T (CACNA2D2)	NP_001005505.1:n.3208+10C>T
NM_001174051.2:c.3229+10C>T (CACNA2D2)	NP_001167522.1:n.3229+10C>T
NM_001291101.1:c.3001+10C>T (CACNA2D2)	NP_001278030.1:n.3001+10C>T
NM_006030.3:c.3208+10C>T (CACNA2D2)	NP_006021.2:n.3208+10C>T
NR_111912.1:n.443-1232G>A (CYB561D2)
XM_005265581.3:c.3211+10C>T (CACNA2D2)	XP_005265638.1:n.3211+10C>T
XM_011534242.1:c.3232+10C>T (CACNA2D2)	XP_011532544.1:n.3232+10C>T
XM_011534243.1:c.3232+10C>T (CACNA2D2)	XP_011532545.1:n.3232+10C>T
XM_011534244.1:c.3211+10C>T (CACNA2D2)	XP_011532546.1:n.3211+10C>T
XM_005265581.4:c.3211+10C>T (CACNA2D2)	XP_005265638.1:n.3211+10C>T
XM_011534243.2:c.3232+10C>T (CACNA2D2)	XP_011532545.1:n.3232+10C>T
NM_001005505.3:c.3208+10C>T (CACNA2D2)	NP_001005505.1:n.3208+10C>T
NM_001174051.3:c.3229+10C>T (CACNA2D2)	NP_001167522.1:n.3229+10C>T
NM_006030.4:c.3208+10C>T (CACNA2D2) MANE Select	NP_006021.2:n.3208+10C>T
NR_111912.2:n.276-1232G>A (CYB561D2)