Canonical Allele Identifier: CA2360648

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46996763C>T , CM000665.2:g.46996763C>T	GRCh38
NC_000003.11:g.47038253C>T , CM000665.1:g.47038253C>T	GRCh37
NC_000003.10:g.47013257C>T	NCBI36
NG_031914.1:g.22081C>T , LRG_568:g.22081C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.2486C>T MANE Select	NP_055990.1:p.Thr829Met
ENST00000450053.8:c.2486C>T MANE Select	ENSP00000415034.2:p.Thr829Met
NM_001365116.1:c.2384C>T	NP_001352045.1:p.Thr795Met
NM_001365116.2:c.2384C>T	NP_001352045.1:p.Thr795Met
NM_015175.2:c.2486C>T , LRG_568t1:c.2486C>T	NP_055990.1:p.Thr829Met
ENST00000416683.5:c.901C>T
ENST00000450053.7:c.2486C>T	ENSP00000415034.2:p.Thr829Met
ENST00000651747.1:c.2384C>T	ENSP00000499216.1:p.Thr795Met
XM_005264992.2:c.2384C>T	XP_005265049.1:p.Thr795Met
XM_006713072.2:c.2405C>T	XP_006713135.1:p.Thr802Met
XM_006713072.3:c.2405C>T	XP_006713135.1:p.Thr802Met
XM_011533532.1:c.2465C>T	XP_011531834.1:p.Thr822Met
XM_011533533.1:c.2486C>T	XP_011531835.1:p.Thr829Met
XM_011533533.2:c.2486C>T	XP_011531835.1:p.Thr829Met
XM_011533534.1:c.2117C>T	XP_011531836.1:p.Thr706Met
XM_011533535.1:c.1946C>T	XP_011531837.1:p.Thr649Met
XM_011533536.1:c.1832C>T	XP_011531838.1:p.Thr611Met
XM_011533537.1:c.1394C>T	XP_011531839.1:p.Thr465Met
XM_017006010.1:c.2486C>T	XP_016861499.1:p.Thr829Met
XM_017006011.1:c.2465C>T	XP_016861500.1:p.Thr822Met
XM_017006012.1:c.2405C>T	XP_016861501.1:p.Thr802Met
XM_017006013.1:c.2486C>T	XP_016861502.1:p.Thr829Met
XM_017006014.1:c.2384C>T	XP_016861503.1:p.Thr795Met
XM_017006015.1:c.2117C>T	XP_016861504.1:p.Thr706Met
XM_017006016.1:c.1946C>T	XP_016861505.1:p.Thr649Met
XR_940397.1:n.2662C>T
XR_940397.2:n.2662C>T
XR_940398.1:n.2662C>T