Canonical Allele Identifier: CA2665858616
Community Standard Title: NM_006030.4(CACNA2D2):c.2862+15A>G
Gene: CACNA2D2 HGNC NCBI
CYB561D2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50365996T>C , CM000665.2:g.50365996T>C GRCh38
NC_000003.11:g.50403427T>C , CM000665.1:g.50403427T>C GRCh37
NC_000003.10:g.50378431T>C NCBI36
NG_034070.1:g.143249A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006030.4:c.2862+15A>G (CACNA2D2) MANE Select NP_006021.2:n.2862+15A>G
ENST00000424201.7:c.2862+15A>G (CACNA2D2) MANE Select ENSP00000390329.2:n.2862+15A>G
NM_001005505.2:c.2862+15A>G (CACNA2D2) NP_001005505.1:n.2862+15A>G
NM_001005505.3:c.2862+15A>G (CACNA2D2) NP_001005505.1:n.2862+15A>G
NM_001174051.2:c.2883+15A>G (CACNA2D2) NP_001167522.1:n.2883+15A>G
NM_001174051.3:c.2883+15A>G (CACNA2D2) NP_001167522.1:n.2883+15A>G
NM_001291101.1:c.2655+15A>G (CACNA2D2) NP_001278030.1:n.2655+15A>G
NM_006030.3:c.2862+15A>G (CACNA2D2) NP_006021.2:n.2862+15A>G
NR_111912.1:n.443-301T>C (CYB561D2)
NR_111912.2:n.276-301T>C (CYB561D2)
NR_111913.1:n.524+139T>C (CYB561D2)
NR_111913.2:n.495+139T>C (CYB561D2)
NR_111914.1:n.505+158T>C (CYB561D2)
NR_111914.2:n.476+158T>C (CYB561D2)
ENST00000266039.7:c.2862+15A>G (CACNA2D2) ENSP00000266039.3:n.2862+15A>G
ENST00000360963.7:c.2655+15A>G (CACNA2D2) ENSP00000354228.3:n.2655+15A>G
ENST00000423994.6:c.2886+15A>G (CACNA2D2) ENSP00000407393.2:n.2886+15A>G
ENST00000424201.6:c.2862+15A>G (CACNA2D2) ENSP00000390329.2:n.2862+15A>G
ENST00000429770.5:c.2865+15A>G (CACNA2D2) ENSP00000404631.1:n.2865+15A>G
ENST00000479441.1:c.2883+15A>G (CACNA2D2) ENSP00000418081.1:n.2883+15A>G
ENST00000606589.1:c.128-301T>C ENSP00000476225.1:n.128-301T>C
XM_005265581.3:c.2865+15A>G (CACNA2D2) XP_005265638.1:n.2865+15A>G
XM_005265581.4:c.2865+15A>G (CACNA2D2) XP_005265638.1:n.2865+15A>G
XM_011534242.1:c.2886+15A>G (CACNA2D2) XP_011532544.1:n.2886+15A>G
XM_011534243.1:c.2886+15A>G (CACNA2D2) XP_011532545.1:n.2886+15A>G
XM_011534243.2:c.2886+15A>G (CACNA2D2) XP_011532545.1:n.2886+15A>G
XM_011534244.1:c.2865+15A>G (CACNA2D2) XP_011532546.1:n.2865+15A>G