Canonical Allele Identifier: CA352530270

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47004535T>A , CM000665.2:g.47004535T>A	GRCh38
NC_000003.11:g.47046025T>A , CM000665.1:g.47046025T>A	GRCh37
NC_000003.10:g.47021029T>A	NCBI36
NG_031914.1:g.29853T>A , LRG_568:g.29853T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6239T>A MANE Select	NP_055990.1:p.Met2080Lys
ENST00000450053.8:c.6239T>A MANE Select	ENSP00000415034.2:p.Met2080Lys
NM_001365116.1:c.6137T>A	NP_001352045.1:p.Met2046Lys
NM_001365116.2:c.6137T>A	NP_001352045.1:p.Met2046Lys
NM_015175.2:c.6239T>A , LRG_568t1:c.6239T>A	NP_055990.1:p.Met2080Lys
ENST00000416683.5:c.4102T>A
ENST00000441027.5:c.263T>A	ENSP00000409601.1:p.Met88Lys
ENST00000443829.5:c.1344T>A
ENST00000450053.7:c.6239T>A	ENSP00000415034.2:p.Met2080Lys
ENST00000651450.1:n.509T>A
ENST00000651747.1:c.6137T>A	ENSP00000499216.1:p.Met2046Lys
XM_005264992.2:c.6137T>A	XP_005265049.1:p.Met2046Lys
XM_005264993.2:c.2711T>A	XP_005265050.1:p.Met904Lys
XM_006713072.2:c.6158T>A	XP_006713135.1:p.Met2053Lys
XM_006713072.3:c.6158T>A	XP_006713135.1:p.Met2053Lys
XM_011533532.1:c.6218T>A	XP_011531834.1:p.Met2073Lys
XM_011533533.1:c.6239T>A	XP_011531835.1:p.Met2080Lys
XM_011533533.2:c.6239T>A	XP_011531835.1:p.Met2080Lys
XM_011533534.1:c.5870T>A	XP_011531836.1:p.Met1957Lys
XM_011533535.1:c.5699T>A	XP_011531837.1:p.Met1900Lys
XM_011533536.1:c.5585T>A	XP_011531838.1:p.Met1862Lys
XM_011533537.1:c.5147T>A	XP_011531839.1:p.Met1716Lys
XM_017006010.1:c.6239T>A	XP_016861499.1:p.Met2080Lys
XM_017006011.1:c.6218T>A	XP_016861500.1:p.Met2073Lys
XM_017006012.1:c.6158T>A	XP_016861501.1:p.Met2053Lys
XM_017006013.1:c.6239T>A	XP_016861502.1:p.Met2080Lys
XM_017006014.1:c.6137T>A	XP_016861503.1:p.Met2046Lys
XM_017006015.1:c.5870T>A	XP_016861504.1:p.Met1957Lys
XM_017006016.1:c.5699T>A	XP_016861505.1:p.Met1900Lys
XM_017006017.1:c.2711T>A	XP_016861506.1:p.Met904Lys
XR_940397.1:n.6415T>A
XR_940397.2:n.6415T>A