Canonical Allele Identifier: CA2362394

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47009285G>C , CM000665.2:g.47009285G>C	GRCh38
NC_000003.11:g.47050775G>C , CM000665.1:g.47050775G>C	GRCh37
NC_000003.10:g.47025779G>C	NCBI36
NG_031914.1:g.34603G>C , LRG_568:g.34603G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.8230G>C MANE Select	NP_055990.1:p.Gly2744Arg
ENST00000450053.8:c.8230G>C MANE Select	ENSP00000415034.2:p.Gly2744Arg
NM_001365116.1:c.8128G>C	NP_001352045.1:p.Gly2710Arg
NM_001365116.2:c.8128G>C	NP_001352045.1:p.Gly2710Arg
NM_015175.2:c.8230G>C , LRG_568t1:c.8230G>C	NP_055990.1:p.Gly2744Arg
ENST00000416683.5:c.6093G>C
ENST00000443829.5:c.3245G>C
ENST00000450053.7:c.8230G>C	ENSP00000415034.2:p.Gly2744Arg
ENST00000651453.1:n.4142G>C
ENST00000651747.1:c.8128G>C	ENSP00000499216.1:p.Gly2710Arg
XM_005264992.2:c.8128G>C	XP_005265049.1:p.Gly2710Arg
XM_005264993.2:c.4702G>C	XP_005265050.1:p.Gly1568Arg
XM_006713072.2:c.8149G>C	XP_006713135.1:p.Gly2717Arg
XM_006713072.3:c.8149G>C	XP_006713135.1:p.Gly2717Arg
XM_011533532.1:c.8209G>C	XP_011531834.1:p.Gly2737Arg
XM_011533533.1:c.8140G>C	XP_011531835.1:p.Gly2714Arg
XM_011533533.2:c.8140G>C	XP_011531835.1:p.Gly2714Arg
XM_011533534.1:c.7861G>C	XP_011531836.1:p.Gly2621Arg
XM_011533535.1:c.7690G>C	XP_011531837.1:p.Gly2564Arg
XM_011533536.1:c.7576G>C	XP_011531838.1:p.Gly2526Arg
XM_011533537.1:c.7138G>C	XP_011531839.1:p.Gly2380Arg
XM_017006010.1:c.8324G>C	XP_016861499.1:p.Gly2775Ala
XM_017006011.1:c.8303G>C	XP_016861500.1:p.Gly2768Ala
XM_017006012.1:c.8243G>C	XP_016861501.1:p.Gly2748Ala
XM_017006013.1:c.8234G>C	XP_016861502.1:p.Gly2745Ala
XM_017006014.1:c.8222G>C	XP_016861503.1:p.Gly2741Ala
XM_017006015.1:c.7955G>C	XP_016861504.1:p.Gly2652Ala
XM_017006016.1:c.7784G>C	XP_016861505.1:p.Gly2595Ala
XM_017006017.1:c.4796G>C	XP_016861506.1:p.Gly1599Ala
XR_940397.1:n.8206G>C
XR_940397.2:n.8206G>C