Canonical Allele Identifier: CA352509580

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46996051G>C , CM000665.2:g.46996051G>C	GRCh38
NC_000003.11:g.47037541G>C , CM000665.1:g.47037541G>C	GRCh37
NC_000003.10:g.47012545G>C	NCBI36
NG_031914.1:g.21369G>C , LRG_568:g.21369G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.2151G>C MANE Select	NP_055990.1:p.Glu717Asp
ENST00000450053.8:c.2151G>C MANE Select	ENSP00000415034.2:p.Glu717Asp
NM_001365116.1:c.2049G>C	NP_001352045.1:p.Glu683Asp
NM_001365116.2:c.2049G>C	NP_001352045.1:p.Glu683Asp
NM_015175.2:c.2151G>C , LRG_568t1:c.2151G>C	NP_055990.1:p.Glu717Asp
ENST00000416683.5:c.566G>C
ENST00000450053.7:c.2151G>C	ENSP00000415034.2:p.Glu717Asp
ENST00000651747.1:c.2049G>C	ENSP00000499216.1:p.Glu683Asp
XM_005264992.2:c.2049G>C	XP_005265049.1:p.Glu683Asp
XM_006713072.2:c.2070G>C	XP_006713135.1:p.Glu690Asp
XM_006713072.3:c.2070G>C	XP_006713135.1:p.Glu690Asp
XM_011533532.1:c.2130G>C	XP_011531834.1:p.Glu710Asp
XM_011533533.1:c.2151G>C	XP_011531835.1:p.Glu717Asp
XM_011533533.2:c.2151G>C	XP_011531835.1:p.Glu717Asp
XM_011533534.1:c.1782G>C	XP_011531836.1:p.Glu594Asp
XM_011533535.1:c.1611G>C	XP_011531837.1:p.Glu537Asp
XM_011533536.1:c.1497G>C	XP_011531838.1:p.Glu499Asp
XM_011533537.1:c.1059G>C	XP_011531839.1:p.Glu353Asp
XM_017006010.1:c.2151G>C	XP_016861499.1:p.Glu717Asp
XM_017006011.1:c.2130G>C	XP_016861500.1:p.Glu710Asp
XM_017006012.1:c.2070G>C	XP_016861501.1:p.Glu690Asp
XM_017006013.1:c.2151G>C	XP_016861502.1:p.Glu717Asp
XM_017006014.1:c.2049G>C	XP_016861503.1:p.Glu683Asp
XM_017006015.1:c.1782G>C	XP_016861504.1:p.Glu594Asp
XM_017006016.1:c.1611G>C	XP_016861505.1:p.Glu537Asp
XR_940397.1:n.2327G>C
XR_940397.2:n.2327G>C
XR_940398.1:n.2327G>C