Canonical Allele Identifier: CA352516446

Gene: NBEAL2

Linked Data

• gnomAD v3: 3-47000039-A-C
• gnomAD v4: 3-47000039-A-C
• MyVariant Identifiers: chr3:g.47041529A>C (hg19) ; chr3:g.47000039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000039A>C , CM000665.2:g.47000039A>C	GRCh38
NC_000003.11:g.47041529A>C , CM000665.1:g.47041529A>C	GRCh37
NC_000003.10:g.47016533A>C	NCBI36
NG_031914.1:g.25357A>C , LRG_568:g.25357A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3940A>C MANE Select	ENSP00000415034.2:p.Lys1314Gln
ENST00000651747.1:c.3838A>C	ENSP00000499216.1:p.Lys1280Gln
ENST00000652744.1:n.277A>C
ENST00000416683.5:c.1960-157A>C
ENST00000450053.7:c.3940A>C	ENSP00000415034.2:p.Lys1314Gln
NM_015175.2:c.3940A>C , LRG_568t1:c.3940A>C	NP_055990.1:p.Lys1314Gln
XM_005264992.2:c.3838A>C	XP_005265049.1:p.Lys1280Gln
XM_005264993.2:c.412A>C	XP_005265050.1:p.Lys138Gln
XM_006713072.2:c.3859A>C	XP_006713135.1:p.Lys1287Gln
XM_011533532.1:c.3919A>C	XP_011531834.1:p.Lys1307Gln
XM_011533533.1:c.3940A>C	XP_011531835.1:p.Lys1314Gln
XM_011533534.1:c.3571A>C	XP_011531836.1:p.Lys1191Gln
XM_011533535.1:c.3400A>C	XP_011531837.1:p.Lys1134Gln
XM_011533536.1:c.3286A>C	XP_011531838.1:p.Lys1096Gln
XM_011533537.1:c.2848A>C	XP_011531839.1:p.Lys950Gln
XR_940397.1:n.4116A>C
XR_940398.1:n.4116A>C
NM_001365116.1:c.3838A>C	NP_001352045.1:p.Lys1280Gln
XM_006713072.3:c.3859A>C	XP_006713135.1:p.Lys1287Gln
XM_011533533.2:c.3940A>C	XP_011531835.1:p.Lys1314Gln
XM_017006010.1:c.3940A>C	XP_016861499.1:p.Lys1314Gln
XM_017006011.1:c.3919A>C	XP_016861500.1:p.Lys1307Gln
XM_017006012.1:c.3859A>C	XP_016861501.1:p.Lys1287Gln
XM_017006013.1:c.3940A>C	XP_016861502.1:p.Lys1314Gln
XM_017006014.1:c.3838A>C	XP_016861503.1:p.Lys1280Gln
XM_017006015.1:c.3571A>C	XP_016861504.1:p.Lys1191Gln
XM_017006016.1:c.3400A>C	XP_016861505.1:p.Lys1134Gln
XM_017006017.1:c.412A>C	XP_016861506.1:p.Lys138Gln
XR_940397.2:n.4116A>C
NM_001365116.2:c.3838A>C	NP_001352045.1:p.Lys1280Gln
NM_015175.3:c.3940A>C MANE Select	NP_055990.1:p.Lys1314Gln