Canonical Allele Identifier: CA352516967

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041718A>T (hg19) ; chr3:g.47000228A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000228A>T , CM000665.2:g.47000228A>T	GRCh38
NC_000003.11:g.47041718A>T , CM000665.1:g.47041718A>T	GRCh37
NC_000003.10:g.47016722A>T	NCBI36
NG_031914.1:g.25546A>T , LRG_568:g.25546A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4129A>T MANE Select	ENSP00000415034.2:p.Ser1377Cys
ENST00000651747.1:c.4027A>T	ENSP00000499216.1:p.Ser1343Cys
ENST00000652744.1:n.466A>T
ENST00000416683.5:c.1992A>T
ENST00000450053.7:c.4129A>T	ENSP00000415034.2:p.Ser1377Cys
NM_015175.2:c.4129A>T , LRG_568t1:c.4129A>T	NP_055990.1:p.Ser1377Cys
XM_005264992.2:c.4027A>T	XP_005265049.1:p.Ser1343Cys
XM_005264993.2:c.601A>T	XP_005265050.1:p.Ser201Cys
XM_006713072.2:c.4048A>T	XP_006713135.1:p.Ser1350Cys
XM_011533532.1:c.4108A>T	XP_011531834.1:p.Ser1370Cys
XM_011533533.1:c.4129A>T	XP_011531835.1:p.Ser1377Cys
XM_011533534.1:c.3760A>T	XP_011531836.1:p.Ser1254Cys
XM_011533535.1:c.3589A>T	XP_011531837.1:p.Ser1197Cys
XM_011533536.1:c.3475A>T	XP_011531838.1:p.Ser1159Cys
XM_011533537.1:c.3037A>T	XP_011531839.1:p.Ser1013Cys
XR_940397.1:n.4305A>T
XR_940398.1:n.4305A>T
NM_001365116.1:c.4027A>T	NP_001352045.1:p.Ser1343Cys
XM_006713072.3:c.4048A>T	XP_006713135.1:p.Ser1350Cys
XM_011533533.2:c.4129A>T	XP_011531835.1:p.Ser1377Cys
XM_017006010.1:c.4129A>T	XP_016861499.1:p.Ser1377Cys
XM_017006011.1:c.4108A>T	XP_016861500.1:p.Ser1370Cys
XM_017006012.1:c.4048A>T	XP_016861501.1:p.Ser1350Cys
XM_017006013.1:c.4129A>T	XP_016861502.1:p.Ser1377Cys
XM_017006014.1:c.4027A>T	XP_016861503.1:p.Ser1343Cys
XM_017006015.1:c.3760A>T	XP_016861504.1:p.Ser1254Cys
XM_017006016.1:c.3589A>T	XP_016861505.1:p.Ser1197Cys
XM_017006017.1:c.601A>T	XP_016861506.1:p.Ser201Cys
XR_940397.2:n.4305A>T
NM_001365116.2:c.4027A>T	NP_001352045.1:p.Ser1343Cys
NM_015175.3:c.4129A>T MANE Select	NP_055990.1:p.Ser1377Cys