Canonical Allele Identifier: CA2832544513

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000006_47000007dup , CM000665.2:g.47000006_47000007dup	GRCh38
NC_000003.11:g.47041496_47041497dup , CM000665.1:g.47041496_47041497dup	GRCh37
NC_000003.10:g.47016500_47016501dup	NCBI36
NG_031914.1:g.25324_25325dup , LRG_568:g.25324_25325dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3907_3908dup MANE Select	ENSP00000415034.2:p.Pro1304LeufsTer?
ENST00000651747.1:c.3805_3806dup	ENSP00000499216.1:p.Pro1270LeufsTer?
ENST00000652744.1:n.244_245dup
ENST00000416683.5:c.1960-190_1960-189dup
ENST00000450053.7:c.3907_3908dup	ENSP00000415034.2:p.Pro1304LeufsTer?
NM_015175.2:c.3907_3908dup , LRG_568t1:c.3907_3908dup	NP_055990.1:p.Pro1304LeufsTer?
XM_005264992.2:c.3805_3806dup	XP_005265049.1:p.Pro1270LeufsTer?
XM_005264993.2:c.379_380dup	XP_005265050.1:p.Pro128LeufsTer?
XM_006713072.2:c.3826_3827dup	XP_006713135.1:p.Pro1277LeufsTer?
XM_011533532.1:c.3886_3887dup	XP_011531834.1:p.Pro1297LeufsTer?
XM_011533533.1:c.3907_3908dup	XP_011531835.1:p.Pro1304LeufsTer?
XM_011533534.1:c.3538_3539dup	XP_011531836.1:p.Pro1181LeufsTer?
XM_011533535.1:c.3367_3368dup	XP_011531837.1:p.Pro1124LeufsTer?
XM_011533536.1:c.3253_3254dup	XP_011531838.1:p.Pro1086LeufsTer?
XM_011533537.1:c.2815_2816dup	XP_011531839.1:p.Pro940LeufsTer?
XR_940397.1:n.4083_4084dup
XR_940398.1:n.4083_4084dup
NM_001365116.1:c.3805_3806dup	NP_001352045.1:p.Pro1270LeufsTer?
XM_006713072.3:c.3826_3827dup	XP_006713135.1:p.Pro1277LeufsTer?
XM_011533533.2:c.3907_3908dup	XP_011531835.1:p.Pro1304LeufsTer?
XM_017006010.1:c.3907_3908dup	XP_016861499.1:p.Pro1304LeufsTer?
XM_017006011.1:c.3886_3887dup	XP_016861500.1:p.Pro1297LeufsTer?
XM_017006012.1:c.3826_3827dup	XP_016861501.1:p.Pro1277LeufsTer?
XM_017006013.1:c.3907_3908dup	XP_016861502.1:p.Pro1304LeufsTer?
XM_017006014.1:c.3805_3806dup	XP_016861503.1:p.Pro1270LeufsTer?
XM_017006015.1:c.3538_3539dup	XP_016861504.1:p.Pro1181LeufsTer?
XM_017006016.1:c.3367_3368dup	XP_016861505.1:p.Pro1124LeufsTer?
XM_017006017.1:c.379_380dup	XP_016861506.1:p.Pro128LeufsTer?
XR_940397.2:n.4083_4084dup
NM_001365116.2:c.3805_3806dup	NP_001352045.1:p.Pro1270LeufsTer?
NM_015175.3:c.3907_3908dup MANE Select	NP_055990.1:p.Pro1304LeufsTer?