Canonical Allele Identifier: CA352536760

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47006038T>G , CM000665.2:g.47006038T>G	GRCh38
NC_000003.11:g.47047528T>G , CM000665.1:g.47047528T>G	GRCh37
NC_000003.10:g.47022532T>G	NCBI36
NG_031914.1:g.31356T>G , LRG_568:g.31356T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6894T>G MANE Select	NP_055990.1:p.Asn2298Lys
ENST00000450053.8:c.6894T>G MANE Select	ENSP00000415034.2:p.Asn2298Lys
NM_001365116.1:c.6792T>G	NP_001352045.1:p.Asn2264Lys
NM_001365116.2:c.6792T>G	NP_001352045.1:p.Asn2264Lys
NM_015175.2:c.6894T>G , LRG_568t1:c.6894T>G	NP_055990.1:p.Asn2298Lys
ENST00000416683.5:c.4757T>G
ENST00000423436.1:c.375T>G	ENSP00000415063.1:p.Asn125Lys
ENST00000443829.5:c.1999T>G
ENST00000450053.7:c.6894T>G	ENSP00000415034.2:p.Asn2298Lys
ENST00000486870.1:n.953T>G
ENST00000651350.1:n.154T>G
ENST00000651453.1:n.895T>G
ENST00000651747.1:c.6792T>G	ENSP00000499216.1:p.Asn2264Lys
XM_005264992.2:c.6792T>G	XP_005265049.1:p.Asn2264Lys
XM_005264993.2:c.3366T>G	XP_005265050.1:p.Asn1122Lys
XM_006713072.2:c.6813T>G	XP_006713135.1:p.Asn2271Lys
XM_006713072.3:c.6813T>G	XP_006713135.1:p.Asn2271Lys
XM_011533532.1:c.6873T>G	XP_011531834.1:p.Asn2291Lys
XM_011533533.1:c.6894T>G	XP_011531835.1:p.Asn2298Lys
XM_011533533.2:c.6894T>G	XP_011531835.1:p.Asn2298Lys
XM_011533534.1:c.6525T>G	XP_011531836.1:p.Asn2175Lys
XM_011533535.1:c.6354T>G	XP_011531837.1:p.Asn2118Lys
XM_011533536.1:c.6240T>G	XP_011531838.1:p.Asn2080Lys
XM_011533537.1:c.5802T>G	XP_011531839.1:p.Asn1934Lys
XM_017006010.1:c.6894T>G	XP_016861499.1:p.Asn2298Lys
XM_017006011.1:c.6873T>G	XP_016861500.1:p.Asn2291Lys
XM_017006012.1:c.6813T>G	XP_016861501.1:p.Asn2271Lys
XM_017006013.1:c.6894T>G	XP_016861502.1:p.Asn2298Lys
XM_017006014.1:c.6792T>G	XP_016861503.1:p.Asn2264Lys
XM_017006015.1:c.6525T>G	XP_016861504.1:p.Asn2175Lys
XM_017006016.1:c.6354T>G	XP_016861505.1:p.Asn2118Lys
XM_017006017.1:c.3366T>G	XP_016861506.1:p.Asn1122Lys
XR_940397.1:n.7070T>G
XR_940397.2:n.7070T>G