Canonical Allele Identifier: CA352505398

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46989591A>G , CM000665.2:g.46989591A>G	GRCh38
NC_000003.11:g.47031081A>G , CM000665.1:g.47031081A>G	GRCh37
NC_000003.10:g.47006085A>G	NCBI36
NG_031914.1:g.14909A>G , LRG_568:g.14909A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.554A>G MANE Select	NP_055990.1:p.Gln185Arg
ENST00000450053.8:c.554A>G MANE Select	ENSP00000415034.2:p.Gln185Arg
NM_001365116.1:c.533A>G	NP_001352045.1:p.Gln178Arg
NM_001365116.2:c.533A>G	NP_001352045.1:p.Gln178Arg
NM_015175.2:c.554A>G , LRG_568t1:c.554A>G	NP_055990.1:p.Gln185Arg
ENST00000450053.7:c.554A>G	ENSP00000415034.2:p.Gln185Arg
ENST00000651747.1:c.533A>G	ENSP00000499216.1:p.Gln178Arg
XM_005264992.2:c.533A>G	XP_005265049.1:p.Gln178Arg
XM_006713072.2:c.554A>G	XP_006713135.1:p.Gln185Arg
XM_006713072.3:c.554A>G	XP_006713135.1:p.Gln185Arg
XM_011533532.1:c.533A>G	XP_011531834.1:p.Gln178Arg
XM_011533533.1:c.554A>G	XP_011531835.1:p.Gln185Arg
XM_011533533.2:c.554A>G	XP_011531835.1:p.Gln185Arg
XM_011533534.1:c.554A>G	XP_011531836.1:p.Gln185Arg
XM_011533536.1:c.-101A>G	XP_011531838.1:n.-101A>G
XM_017006010.1:c.554A>G	XP_016861499.1:p.Gln185Arg
XM_017006011.1:c.533A>G	XP_016861500.1:p.Gln178Arg
XM_017006012.1:c.554A>G	XP_016861501.1:p.Gln185Arg
XM_017006013.1:c.554A>G	XP_016861502.1:p.Gln185Arg
XM_017006014.1:c.533A>G	XP_016861503.1:p.Gln178Arg
XM_017006015.1:c.554A>G	XP_016861504.1:p.Gln185Arg
XR_940397.1:n.730A>G
XR_940397.2:n.730A>G
XR_940398.1:n.730A>G