Canonical Allele Identifier: CA2665858030
Community Standard Title: NM_006030.4(CACNA2D2):c.3209-12A>T
Gene: CACNA2D2 HGNC NCBI
CYB561D2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50364982T>A , CM000665.2:g.50364982T>A GRCh38
NC_000003.11:g.50402413T>A , CM000665.1:g.50402413T>A GRCh37
NC_000003.10:g.50377417T>A NCBI36
NG_034070.1:g.144263A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006030.4:c.3209-12A>T (CACNA2D2) MANE Select NP_006021.2:n.3209-12A>T
ENST00000424201.7:c.3209-12A>T (CACNA2D2) MANE Select ENSP00000390329.2:n.3209-12A>T
NM_001005505.2:c.3209-6A>T (CACNA2D2) NP_001005505.1:n.3209-6A>T
NM_001005505.3:c.3209-6A>T (CACNA2D2) NP_001005505.1:n.3209-6A>T
NM_001174051.2:c.3230-12A>T (CACNA2D2) NP_001167522.1:n.3230-12A>T
NM_001174051.3:c.3230-12A>T (CACNA2D2) NP_001167522.1:n.3230-12A>T
NM_001291101.1:c.3002-6A>T (CACNA2D2) NP_001278030.1:n.3002-6A>T
NM_006030.3:c.3209-12A>T (CACNA2D2) NP_006021.2:n.3209-12A>T
NR_111912.1:n.443-1315T>A (CYB561D2)
NR_111912.2:n.276-1315T>A (CYB561D2)
ENST00000266039.7:c.3209-6A>T (CACNA2D2) ENSP00000266039.3:n.3209-6A>T
ENST00000360963.7:c.3002-6A>T (CACNA2D2) ENSP00000354228.3:n.3002-6A>T
ENST00000423994.6:c.3233-6A>T (CACNA2D2) ENSP00000407393.2:n.3233-6A>T
ENST00000424201.6:c.3209-12A>T (CACNA2D2) ENSP00000390329.2:n.3209-12A>T
ENST00000429770.5:c.3212-12A>T (CACNA2D2) ENSP00000404631.1:n.3212-12A>T
ENST00000479441.1:c.3230-12A>T (CACNA2D2) ENSP00000418081.1:n.3230-12A>T
ENST00000483620.1:n.480A>T (CACNA2D2)
ENST00000606589.1:c.128-1315T>A ENSP00000476225.1:n.128-1315T>A
XM_005265581.3:c.3212-12A>T (CACNA2D2) XP_005265638.1:n.3212-12A>T
XM_005265581.4:c.3212-12A>T (CACNA2D2) XP_005265638.1:n.3212-12A>T
XM_011534242.1:c.3233-6A>T (CACNA2D2) XP_011532544.1:n.3233-6A>T
XM_011534243.1:c.3233-12A>T (CACNA2D2) XP_011532545.1:n.3233-12A>T
XM_011534243.2:c.3233-12A>T (CACNA2D2) XP_011532545.1:n.3233-12A>T
XM_011534244.1:c.3212-6A>T (CACNA2D2) XP_011532546.1:n.3212-6A>T