Canonical Allele Identifier: CA1362360156

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46993986T= , CM000665.2:g.46993986T=	GRCh38
NC_000003.11:g.47035476T= , CM000665.1:g.47035476T=	GRCh37
NC_000003.10:g.47010480T=	NCBI36
NG_031914.1:g.19304T= , LRG_568:g.19304T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.1163T= MANE Select	NP_055990.1:p.Leu388=
ENST00000450053.8:c.1163T= MANE Select	ENSP00000415034.2:p.Leu388=
NM_001365116.1:c.1061T=	NP_001352045.1:p.Leu354=
NM_001365116.2:c.1061T=	NP_001352045.1:p.Leu354=
NM_015175.2:c.1163T= , LRG_568t1:c.1163T=	NP_055990.1:p.Leu388=
ENST00000450053.7:c.1163T=	ENSP00000415034.2:p.Leu388=
ENST00000651747.1:c.1061T=	ENSP00000499216.1:p.Leu354=
XM_005264992.2:c.1061T=	XP_005265049.1:p.Leu354=
XM_006713072.2:c.1082T=	XP_006713135.1:p.Leu361=
XM_006713072.3:c.1082T=	XP_006713135.1:p.Leu361=
XM_011533532.1:c.1142T=	XP_011531834.1:p.Leu381=
XM_011533533.1:c.1163T=	XP_011531835.1:p.Leu388=
XM_011533533.2:c.1163T=	XP_011531835.1:p.Leu388=
XM_011533534.1:c.794T=	XP_011531836.1:p.Leu265=
XM_011533535.1:c.623T=	XP_011531837.1:p.Leu208=
XM_011533536.1:c.509T=	XP_011531838.1:p.Leu170=
XM_011533537.1:c.71T=	XP_011531839.1:p.Leu24=
XM_017006010.1:c.1163T=	XP_016861499.1:p.Leu388=
XM_017006011.1:c.1142T=	XP_016861500.1:p.Leu381=
XM_017006012.1:c.1082T=	XP_016861501.1:p.Leu361=
XM_017006013.1:c.1163T=	XP_016861502.1:p.Leu388=
XM_017006014.1:c.1061T=	XP_016861503.1:p.Leu354=
XM_017006015.1:c.794T=	XP_016861504.1:p.Leu265=
XM_017006016.1:c.623T=	XP_016861505.1:p.Leu208=
XR_940397.1:n.1339T=
XR_940397.2:n.1339T=
XR_940398.1:n.1339T=