Canonical Allele Identifier: CA433598199

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1575610145
• MyVariant Identifiers: chr3:g.47041516A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000026A>C , CM000665.2:g.47000026A>C	GRCh38
NC_000003.11:g.47041516A>C , CM000665.1:g.47041516A>C	GRCh37
NC_000003.10:g.47016520A>C	NCBI36
NG_031914.1:g.25344A>C , LRG_568:g.25344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3927A>C MANE Select	ENSP00000415034.2:p.Ser1309=
ENST00000651747.1:c.3825A>C	ENSP00000499216.1:p.Ser1275=
ENST00000652744.1:n.264A>C
ENST00000416683.5:c.1960-170A>C
ENST00000450053.7:c.3927A>C	ENSP00000415034.2:p.Ser1309=
NM_015175.2:c.3927A>C , LRG_568t1:c.3927A>C	NP_055990.1:p.Ser1309=
XM_005264992.2:c.3825A>C	XP_005265049.1:p.Ser1275=
XM_005264993.2:c.399A>C	XP_005265050.1:p.Ser133=
XM_006713072.2:c.3846A>C	XP_006713135.1:p.Ser1282=
XM_011533532.1:c.3906A>C	XP_011531834.1:p.Ser1302=
XM_011533533.1:c.3927A>C	XP_011531835.1:p.Ser1309=
XM_011533534.1:c.3558A>C	XP_011531836.1:p.Ser1186=
XM_011533535.1:c.3387A>C	XP_011531837.1:p.Ser1129=
XM_011533536.1:c.3273A>C	XP_011531838.1:p.Ser1091=
XM_011533537.1:c.2835A>C	XP_011531839.1:p.Ser945=
XR_940397.1:n.4103A>C
XR_940398.1:n.4103A>C
NM_001365116.1:c.3825A>C	NP_001352045.1:p.Ser1275=
XM_006713072.3:c.3846A>C	XP_006713135.1:p.Ser1282=
XM_011533533.2:c.3927A>C	XP_011531835.1:p.Ser1309=
XM_017006010.1:c.3927A>C	XP_016861499.1:p.Ser1309=
XM_017006011.1:c.3906A>C	XP_016861500.1:p.Ser1302=
XM_017006012.1:c.3846A>C	XP_016861501.1:p.Ser1282=
XM_017006013.1:c.3927A>C	XP_016861502.1:p.Ser1309=
XM_017006014.1:c.3825A>C	XP_016861503.1:p.Ser1275=
XM_017006015.1:c.3558A>C	XP_016861504.1:p.Ser1186=
XM_017006016.1:c.3387A>C	XP_016861505.1:p.Ser1129=
XM_017006017.1:c.399A>C	XP_016861506.1:p.Ser133=
XR_940397.2:n.4103A>C
NM_001365116.2:c.3825A>C	NP_001352045.1:p.Ser1275=
NM_015175.3:c.3927A>C MANE Select	NP_055990.1:p.Ser1309=