Canonical Allele Identifier: CA352517051

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041761C>A (hg19) ; chr3:g.47000271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000271C>A , CM000665.2:g.47000271C>A	GRCh38
NC_000003.11:g.47041761C>A , CM000665.1:g.47041761C>A	GRCh37
NC_000003.10:g.47016765C>A	NCBI36
NG_031914.1:g.25589C>A , LRG_568:g.25589C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4172C>A MANE Select	ENSP00000415034.2:p.Pro1391Gln
ENST00000651747.1:c.4070C>A	ENSP00000499216.1:p.Pro1357Gln
ENST00000416683.5:c.2035C>A
ENST00000450053.7:c.4172C>A	ENSP00000415034.2:p.Pro1391Gln
NM_015175.2:c.4172C>A , LRG_568t1:c.4172C>A	NP_055990.1:p.Pro1391Gln
XM_005264992.2:c.4070C>A	XP_005265049.1:p.Pro1357Gln
XM_005264993.2:c.644C>A	XP_005265050.1:p.Pro215Gln
XM_006713072.2:c.4091C>A	XP_006713135.1:p.Pro1364Gln
XM_011533532.1:c.4151C>A	XP_011531834.1:p.Pro1384Gln
XM_011533533.1:c.4172C>A	XP_011531835.1:p.Pro1391Gln
XM_011533534.1:c.3803C>A	XP_011531836.1:p.Pro1268Gln
XM_011533535.1:c.3632C>A	XP_011531837.1:p.Pro1211Gln
XM_011533536.1:c.3518C>A	XP_011531838.1:p.Pro1173Gln
XM_011533537.1:c.3080C>A	XP_011531839.1:p.Pro1027Gln
XR_940397.1:n.4348C>A
XR_940398.1:n.4348C>A
NM_001365116.1:c.4070C>A	NP_001352045.1:p.Pro1357Gln
XM_006713072.3:c.4091C>A	XP_006713135.1:p.Pro1364Gln
XM_011533533.2:c.4172C>A	XP_011531835.1:p.Pro1391Gln
XM_017006010.1:c.4172C>A	XP_016861499.1:p.Pro1391Gln
XM_017006011.1:c.4151C>A	XP_016861500.1:p.Pro1384Gln
XM_017006012.1:c.4091C>A	XP_016861501.1:p.Pro1364Gln
XM_017006013.1:c.4172C>A	XP_016861502.1:p.Pro1391Gln
XM_017006014.1:c.4070C>A	XP_016861503.1:p.Pro1357Gln
XM_017006015.1:c.3803C>A	XP_016861504.1:p.Pro1268Gln
XM_017006016.1:c.3632C>A	XP_016861505.1:p.Pro1211Gln
XM_017006017.1:c.644C>A	XP_016861506.1:p.Pro215Gln
XR_940397.2:n.4348C>A
NM_001365116.2:c.4070C>A	NP_001352045.1:p.Pro1357Gln
NM_015175.3:c.4172C>A MANE Select	NP_055990.1:p.Pro1391Gln