Canonical Allele Identifier: CA74654635

Gene: CACNA2D2 CYB561D2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50364762C>G , CM000665.2:g.50364762C>G	GRCh38
NC_000003.11:g.50402193C>G , CM000665.1:g.50402193C>G	GRCh37
NC_000003.10:g.50377197C>G	NCBI36
NG_034070.1:g.144483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424201.7:c.3336G>C (CACNA2D2) MANE Select	ENSP00000390329.2:p.Ser1112=
ENST00000266039.7:c.3342G>C (CACNA2D2)	ENSP00000266039.3:p.Ser1114=
ENST00000360963.7:c.3135G>C (CACNA2D2)	ENSP00000354228.3:p.Ser1045=
ENST00000423994.6:c.3366G>C (CACNA2D2)	ENSP00000407393.2:p.Ser1122=
ENST00000424201.6:c.3336G>C (CACNA2D2)	ENSP00000390329.2:p.Ser1112=
ENST00000429770.5:c.3339G>C (CACNA2D2)	ENSP00000404631.1:p.Ser1113=
ENST00000479441.1:c.3357G>C (CACNA2D2)	ENSP00000418081.1:p.Ser1119=
ENST00000483620.1:n.619G>C (CACNA2D2)
ENST00000606589.1:c.128-1535C>G	ENSP00000476225.1:n.128-1535C>G
NM_001005505.2:c.3342G>C (CACNA2D2)	NP_001005505.1:p.Ser1114=
NM_001174051.2:c.3357G>C (CACNA2D2)	NP_001167522.1:p.Ser1119=
NM_001291101.1:c.3135G>C (CACNA2D2)	NP_001278030.1:p.Ser1045=
NM_006030.3:c.3336G>C (CACNA2D2)	NP_006021.2:p.Ser1112=
NR_111912.1:n.443-1535C>G (CYB561D2)
XM_005265581.3:c.3339G>C (CACNA2D2)	XP_005265638.1:p.Ser1113=
XM_011534242.1:c.3366G>C (CACNA2D2)	XP_011532544.1:p.Ser1122=
XM_011534243.1:c.3360G>C (CACNA2D2)	XP_011532545.1:p.Ser1120=
XM_011534244.1:c.3345G>C (CACNA2D2)	XP_011532546.1:p.Ser1115=
XM_005265581.4:c.3339G>C (CACNA2D2)	XP_005265638.1:p.Ser1113=
XM_011534243.2:c.3360G>C (CACNA2D2)	XP_011532545.1:p.Ser1120=
NM_001005505.3:c.3342G>C (CACNA2D2)	NP_001005505.1:p.Ser1114=
NM_001174051.3:c.3357G>C (CACNA2D2)	NP_001167522.1:p.Ser1119=
NM_006030.4:c.3336G>C (CACNA2D2) MANE Select	NP_006021.2:p.Ser1112=
NR_111912.2:n.276-1535C>G (CYB561D2)