Canonical Allele Identifier: CA352517147

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1219946050
• MyVariant Identifiers: chr3:g.47041811A>C (hg19) ; chr3:g.47000321A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000321A>C , CM000665.2:g.47000321A>C	GRCh38
NC_000003.11:g.47041811A>C , CM000665.1:g.47041811A>C	GRCh37
NC_000003.10:g.47016815A>C	NCBI36
NG_031914.1:g.25639A>C , LRG_568:g.25639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4222A>C MANE Select	ENSP00000415034.2:p.Ser1408Arg
ENST00000651747.1:c.4120A>C	ENSP00000499216.1:p.Ser1374Arg
ENST00000416683.5:c.2085A>C
ENST00000450053.7:c.4222A>C	ENSP00000415034.2:p.Ser1408Arg
NM_015175.2:c.4222A>C , LRG_568t1:c.4222A>C	NP_055990.1:p.Ser1408Arg
XM_005264992.2:c.4120A>C	XP_005265049.1:p.Ser1374Arg
XM_005264993.2:c.694A>C	XP_005265050.1:p.Ser232Arg
XM_006713072.2:c.4141A>C	XP_006713135.1:p.Ser1381Arg
XM_011533532.1:c.4201A>C	XP_011531834.1:p.Ser1401Arg
XM_011533533.1:c.4222A>C	XP_011531835.1:p.Ser1408Arg
XM_011533534.1:c.3853A>C	XP_011531836.1:p.Ser1285Arg
XM_011533535.1:c.3682A>C	XP_011531837.1:p.Ser1228Arg
XM_011533536.1:c.3568A>C	XP_011531838.1:p.Ser1190Arg
XM_011533537.1:c.3130A>C	XP_011531839.1:p.Ser1044Arg
XR_940397.1:n.4398A>C
XR_940398.1:n.4398A>C
NM_001365116.1:c.4120A>C	NP_001352045.1:p.Ser1374Arg
XM_006713072.3:c.4141A>C	XP_006713135.1:p.Ser1381Arg
XM_011533533.2:c.4222A>C	XP_011531835.1:p.Ser1408Arg
XM_017006010.1:c.4222A>C	XP_016861499.1:p.Ser1408Arg
XM_017006011.1:c.4201A>C	XP_016861500.1:p.Ser1401Arg
XM_017006012.1:c.4141A>C	XP_016861501.1:p.Ser1381Arg
XM_017006013.1:c.4222A>C	XP_016861502.1:p.Ser1408Arg
XM_017006014.1:c.4120A>C	XP_016861503.1:p.Ser1374Arg
XM_017006015.1:c.3853A>C	XP_016861504.1:p.Ser1285Arg
XM_017006016.1:c.3682A>C	XP_016861505.1:p.Ser1228Arg
XM_017006017.1:c.694A>C	XP_016861506.1:p.Ser232Arg
XR_940397.2:n.4398A>C
NM_001365116.2:c.4120A>C	NP_001352045.1:p.Ser1374Arg
NM_015175.3:c.4222A>C MANE Select	NP_055990.1:p.Ser1408Arg