Canonical Allele Identifier: CA352516336

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041500C>A (hg19) ; chr3:g.47000010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000010C>A , CM000665.2:g.47000010C>A	GRCh38
NC_000003.11:g.47041500C>A , CM000665.1:g.47041500C>A	GRCh37
NC_000003.10:g.47016504C>A	NCBI36
NG_031914.1:g.25328C>A , LRG_568:g.25328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3911C>A MANE Select	ENSP00000415034.2:p.Pro1304Gln
ENST00000651747.1:c.3809C>A	ENSP00000499216.1:p.Pro1270Gln
ENST00000652744.1:n.248C>A
ENST00000416683.5:c.1960-186C>A
ENST00000450053.7:c.3911C>A	ENSP00000415034.2:p.Pro1304Gln
NM_015175.2:c.3911C>A , LRG_568t1:c.3911C>A	NP_055990.1:p.Pro1304Gln
XM_005264992.2:c.3809C>A	XP_005265049.1:p.Pro1270Gln
XM_005264993.2:c.383C>A	XP_005265050.1:p.Pro128Gln
XM_006713072.2:c.3830C>A	XP_006713135.1:p.Pro1277Gln
XM_011533532.1:c.3890C>A	XP_011531834.1:p.Pro1297Gln
XM_011533533.1:c.3911C>A	XP_011531835.1:p.Pro1304Gln
XM_011533534.1:c.3542C>A	XP_011531836.1:p.Pro1181Gln
XM_011533535.1:c.3371C>A	XP_011531837.1:p.Pro1124Gln
XM_011533536.1:c.3257C>A	XP_011531838.1:p.Pro1086Gln
XM_011533537.1:c.2819C>A	XP_011531839.1:p.Pro940Gln
XR_940397.1:n.4087C>A
XR_940398.1:n.4087C>A
NM_001365116.1:c.3809C>A	NP_001352045.1:p.Pro1270Gln
XM_006713072.3:c.3830C>A	XP_006713135.1:p.Pro1277Gln
XM_011533533.2:c.3911C>A	XP_011531835.1:p.Pro1304Gln
XM_017006010.1:c.3911C>A	XP_016861499.1:p.Pro1304Gln
XM_017006011.1:c.3890C>A	XP_016861500.1:p.Pro1297Gln
XM_017006012.1:c.3830C>A	XP_016861501.1:p.Pro1277Gln
XM_017006013.1:c.3911C>A	XP_016861502.1:p.Pro1304Gln
XM_017006014.1:c.3809C>A	XP_016861503.1:p.Pro1270Gln
XM_017006015.1:c.3542C>A	XP_016861504.1:p.Pro1181Gln
XM_017006016.1:c.3371C>A	XP_016861505.1:p.Pro1124Gln
XM_017006017.1:c.383C>A	XP_016861506.1:p.Pro128Gln
XR_940397.2:n.4087C>A
NM_001365116.2:c.3809C>A	NP_001352045.1:p.Pro1270Gln
NM_015175.3:c.3911C>A MANE Select	NP_055990.1:p.Pro1304Gln