Canonical Allele Identifier: CA433598319

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041594A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000104A>T , CM000665.2:g.47000104A>T	GRCh38
NC_000003.11:g.47041594A>T , CM000665.1:g.47041594A>T	GRCh37
NC_000003.10:g.47016598A>T	NCBI36
NG_031914.1:g.25422A>T , LRG_568:g.25422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4005A>T MANE Select	ENSP00000415034.2:p.Ser1335=
ENST00000651747.1:c.3903A>T	ENSP00000499216.1:p.Ser1301=
ENST00000652744.1:n.342A>T
ENST00000416683.5:c.1960-92A>T
ENST00000450053.7:c.4005A>T	ENSP00000415034.2:p.Ser1335=
NM_015175.2:c.4005A>T , LRG_568t1:c.4005A>T	NP_055990.1:p.Ser1335=
XM_005264992.2:c.3903A>T	XP_005265049.1:p.Ser1301=
XM_005264993.2:c.477A>T	XP_005265050.1:p.Ser159=
XM_006713072.2:c.3924A>T	XP_006713135.1:p.Ser1308=
XM_011533532.1:c.3984A>T	XP_011531834.1:p.Ser1328=
XM_011533533.1:c.4005A>T	XP_011531835.1:p.Ser1335=
XM_011533534.1:c.3636A>T	XP_011531836.1:p.Ser1212=
XM_011533535.1:c.3465A>T	XP_011531837.1:p.Ser1155=
XM_011533536.1:c.3351A>T	XP_011531838.1:p.Ser1117=
XM_011533537.1:c.2913A>T	XP_011531839.1:p.Ser971=
XR_940397.1:n.4181A>T
XR_940398.1:n.4181A>T
NM_001365116.1:c.3903A>T	NP_001352045.1:p.Ser1301=
XM_006713072.3:c.3924A>T	XP_006713135.1:p.Ser1308=
XM_011533533.2:c.4005A>T	XP_011531835.1:p.Ser1335=
XM_017006010.1:c.4005A>T	XP_016861499.1:p.Ser1335=
XM_017006011.1:c.3984A>T	XP_016861500.1:p.Ser1328=
XM_017006012.1:c.3924A>T	XP_016861501.1:p.Ser1308=
XM_017006013.1:c.4005A>T	XP_016861502.1:p.Ser1335=
XM_017006014.1:c.3903A>T	XP_016861503.1:p.Ser1301=
XM_017006015.1:c.3636A>T	XP_016861504.1:p.Ser1212=
XM_017006016.1:c.3465A>T	XP_016861505.1:p.Ser1155=
XM_017006017.1:c.477A>T	XP_016861506.1:p.Ser159=
XR_940397.2:n.4181A>T
NM_001365116.2:c.3903A>T	NP_001352045.1:p.Ser1301=
NM_015175.3:c.4005A>T MANE Select	NP_055990.1:p.Ser1335=