Canonical Allele Identifier: CA2418104
Gene: CACNA2D2 HGNC NCBI
CYB561D2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50364798G>A , CM000665.2:g.50364798G>A GRCh38
NC_000003.11:g.50402229G>A , CM000665.1:g.50402229G>A GRCh37
NC_000003.10:g.50377233G>A NCBI36
NG_034070.1:g.144447C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424201.7:c.3300C>T (CACNA2D2) MANE Select ENSP00000390329.2:p.Thr1100=
ENST00000266039.7:c.3306C>T (CACNA2D2) ENSP00000266039.3:p.Thr1102=
ENST00000360963.7:c.3099C>T (CACNA2D2) ENSP00000354228.3:p.Thr1033=
ENST00000423994.6:c.3330C>T (CACNA2D2) ENSP00000407393.2:p.Thr1110=
ENST00000424201.6:c.3300C>T (CACNA2D2) ENSP00000390329.2:p.Thr1100=
ENST00000429770.5:c.3303C>T (CACNA2D2) ENSP00000404631.1:p.Thr1101=
ENST00000479441.1:c.3321C>T (CACNA2D2) ENSP00000418081.1:p.Thr1107=
ENST00000483620.1:n.583C>T (CACNA2D2)
ENST00000606589.1:c.128-1499G>A ENSP00000476225.1:n.128-1499G>A
NM_001005505.2:c.3306C>T (CACNA2D2) NP_001005505.1:p.Thr1102=
NM_001174051.2:c.3321C>T (CACNA2D2) NP_001167522.1:p.Thr1107=
NM_001291101.1:c.3099C>T (CACNA2D2) NP_001278030.1:p.Thr1033=
NM_006030.3:c.3300C>T (CACNA2D2) NP_006021.2:p.Thr1100=
NR_111912.1:n.443-1499G>A (CYB561D2)
XM_005265581.3:c.3303C>T (CACNA2D2) XP_005265638.1:p.Thr1101=
XM_011534242.1:c.3330C>T (CACNA2D2) XP_011532544.1:p.Thr1110=
XM_011534243.1:c.3324C>T (CACNA2D2) XP_011532545.1:p.Thr1108=
XM_011534244.1:c.3309C>T (CACNA2D2) XP_011532546.1:p.Thr1103=
XM_005265581.4:c.3303C>T (CACNA2D2) XP_005265638.1:p.Thr1101=
XM_011534243.2:c.3324C>T (CACNA2D2) XP_011532545.1:p.Thr1108=
NM_001005505.3:c.3306C>T (CACNA2D2) NP_001005505.1:p.Thr1102=
NM_001174051.3:c.3321C>T (CACNA2D2) NP_001167522.1:p.Thr1107=
NM_006030.4:c.3300C>T (CACNA2D2) MANE Select NP_006021.2:p.Thr1100=
NR_111912.2:n.276-1499G>A (CYB561D2)