Canonical Allele Identifier: CA352517379

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000393-A-C
• MyVariant Identifiers: chr3:g.47041883A>C (hg19) ; chr3:g.47000393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000393A>C , CM000665.2:g.47000393A>C	GRCh38
NC_000003.11:g.47041883A>C , CM000665.1:g.47041883A>C	GRCh37
NC_000003.10:g.47016887A>C	NCBI36
NG_031914.1:g.25711A>C , LRG_568:g.25711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4294A>C MANE Select	ENSP00000415034.2:p.Ser1432Arg
ENST00000651747.1:c.4192A>C	ENSP00000499216.1:p.Ser1398Arg
ENST00000416683.5:c.2157A>C
ENST00000450053.7:c.4294A>C	ENSP00000415034.2:p.Ser1432Arg
NM_015175.2:c.4294A>C , LRG_568t1:c.4294A>C	NP_055990.1:p.Ser1432Arg
XM_005264992.2:c.4192A>C	XP_005265049.1:p.Ser1398Arg
XM_005264993.2:c.766A>C	XP_005265050.1:p.Ser256Arg
XM_006713072.2:c.4213A>C	XP_006713135.1:p.Ser1405Arg
XM_011533532.1:c.4273A>C	XP_011531834.1:p.Ser1425Arg
XM_011533533.1:c.4294A>C	XP_011531835.1:p.Ser1432Arg
XM_011533534.1:c.3925A>C	XP_011531836.1:p.Ser1309Arg
XM_011533535.1:c.3754A>C	XP_011531837.1:p.Ser1252Arg
XM_011533536.1:c.3640A>C	XP_011531838.1:p.Ser1214Arg
XM_011533537.1:c.3202A>C	XP_011531839.1:p.Ser1068Arg
XR_940397.1:n.4470A>C
XR_940398.1:n.4470A>C
NM_001365116.1:c.4192A>C	NP_001352045.1:p.Ser1398Arg
XM_006713072.3:c.4213A>C	XP_006713135.1:p.Ser1405Arg
XM_011533533.2:c.4294A>C	XP_011531835.1:p.Ser1432Arg
XM_017006010.1:c.4294A>C	XP_016861499.1:p.Ser1432Arg
XM_017006011.1:c.4273A>C	XP_016861500.1:p.Ser1425Arg
XM_017006012.1:c.4213A>C	XP_016861501.1:p.Ser1405Arg
XM_017006013.1:c.4294A>C	XP_016861502.1:p.Ser1432Arg
XM_017006014.1:c.4192A>C	XP_016861503.1:p.Ser1398Arg
XM_017006015.1:c.3925A>C	XP_016861504.1:p.Ser1309Arg
XM_017006016.1:c.3754A>C	XP_016861505.1:p.Ser1252Arg
XM_017006017.1:c.766A>C	XP_016861506.1:p.Ser256Arg
XR_940397.2:n.4470A>C
NM_001365116.2:c.4192A>C	NP_001352045.1:p.Ser1398Arg
NM_015175.3:c.4294A>C MANE Select	NP_055990.1:p.Ser1432Arg