Canonical Allele Identifier: CA2418752

Gene: CACNA2D2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50376022G>A , CM000665.2:g.50376022G>A	GRCh38
NC_000003.11:g.50413453G>A , CM000665.1:g.50413453G>A	GRCh37
NC_000003.10:g.50388457G>A	NCBI36
NG_034070.1:g.133223C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006030.4:c.1714C>T MANE Select	NP_006021.2:p.Arg572Trp
ENST00000424201.7:c.1714C>T MANE Select	ENSP00000390329.2:p.Arg572Trp
NM_001005505.2:c.1714C>T	NP_001005505.1:p.Arg572Trp
NM_001005505.3:c.1714C>T	NP_001005505.1:p.Arg572Trp
NM_001174051.2:c.1714C>T	NP_001167522.1:p.Arg572Trp
NM_001174051.3:c.1714C>T	NP_001167522.1:p.Arg572Trp
NM_001291101.1:c.1507C>T	NP_001278030.1:p.Arg503Trp
NM_006030.3:c.1714C>T	NP_006021.2:p.Arg572Trp
ENST00000266039.7:c.1714C>T	ENSP00000266039.3:p.Arg572Trp
ENST00000360963.7:c.1507C>T	ENSP00000354228.3:p.Arg503Trp
ENST00000423994.6:c.1714C>T	ENSP00000407393.2:p.Arg572Trp
ENST00000424201.6:c.1714C>T	ENSP00000390329.2:p.Arg572Trp
ENST00000429770.5:c.1714C>T	ENSP00000404631.1:p.Arg572Trp
ENST00000479441.1:c.1714C>T	ENSP00000418081.1:p.Arg572Trp
XM_005265581.3:c.1714C>T	XP_005265638.1:p.Arg572Trp
XM_005265581.4:c.1714C>T	XP_005265638.1:p.Arg572Trp
XM_011534242.1:c.1714C>T	XP_011532544.1:p.Arg572Trp
XM_011534243.1:c.1714C>T	XP_011532545.1:p.Arg572Trp
XM_011534243.2:c.1714C>T	XP_011532545.1:p.Arg572Trp
XM_011534244.1:c.1714C>T	XP_011532546.1:p.Arg572Trp