Canonical Allele Identifier: CA1362365285

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47004976C= , CM000665.2:g.47004976C=	GRCh38
NC_000003.11:g.47046466C= , CM000665.1:g.47046466C=	GRCh37
NC_000003.10:g.47021470C=	NCBI36
NG_031914.1:g.30294C= , LRG_568:g.30294C=

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6299C= MANE Select	NP_055990.1:p.Pro2100=
ENST00000450053.8:c.6299C= MANE Select	ENSP00000415034.2:p.Pro2100=
NM_001365116.1:c.6197C=	NP_001352045.1:p.Pro2066=
NM_001365116.2:c.6197C=	NP_001352045.1:p.Pro2066=
NM_015175.2:c.6299C= , LRG_568t1:c.6299C=	NP_055990.1:p.Pro2100=
ENST00000416683.5:c.4162C=
ENST00000441027.5:c.319-205C=	ENSP00000409601.1:n.319-205C=
ENST00000443829.5:c.1404C=
ENST00000450053.7:c.6299C=	ENSP00000415034.2:p.Pro2100=
ENST00000486870.1:n.358C=
ENST00000651747.1:c.6197C=	ENSP00000499216.1:p.Pro2066=
XM_005264992.2:c.6197C=	XP_005265049.1:p.Pro2066=
XM_005264993.2:c.2771C=	XP_005265050.1:p.Pro924=
XM_006713072.2:c.6218C=	XP_006713135.1:p.Pro2073=
XM_006713072.3:c.6218C=	XP_006713135.1:p.Pro2073=
XM_011533532.1:c.6278C=	XP_011531834.1:p.Pro2093=
XM_011533533.1:c.6299C=	XP_011531835.1:p.Pro2100=
XM_011533533.2:c.6299C=	XP_011531835.1:p.Pro2100=
XM_011533534.1:c.5930C=	XP_011531836.1:p.Pro1977=
XM_011533535.1:c.5759C=	XP_011531837.1:p.Pro1920=
XM_011533536.1:c.5645C=	XP_011531838.1:p.Pro1882=
XM_011533537.1:c.5207C=	XP_011531839.1:p.Pro1736=
XM_017006010.1:c.6299C=	XP_016861499.1:p.Pro2100=
XM_017006011.1:c.6278C=	XP_016861500.1:p.Pro2093=
XM_017006012.1:c.6218C=	XP_016861501.1:p.Pro2073=
XM_017006013.1:c.6299C=	XP_016861502.1:p.Pro2100=
XM_017006014.1:c.6197C=	XP_016861503.1:p.Pro2066=
XM_017006015.1:c.5930C=	XP_016861504.1:p.Pro1977=
XM_017006016.1:c.5759C=	XP_016861505.1:p.Pro1920=
XM_017006017.1:c.2771C=	XP_016861506.1:p.Pro924=
XR_940397.1:n.6475C=
XR_940397.2:n.6475C=