Canonical Allele Identifier: CA907614372

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1408488387
• MyVariant Identifiers: chr3:g.47041408_47041409insGTA (hg19) ; chr3:g.46999918_46999919insGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999921_46999923dup , CM000665.2:g.46999921_46999923dup	GRCh38
NC_000003.11:g.47041411_47041413dup , CM000665.1:g.47041411_47041413dup	GRCh37
NC_000003.10:g.47016415_47016417dup	NCBI36
NG_031914.1:g.25239_25241dup , LRG_568:g.25239_25241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3822_3824dup MANE Select	ENSP00000415034.2:p.Val1275_Arg1276insVal
ENST00000651747.1:c.3720_3722dup	ENSP00000499216.1:p.Val1241_Arg1242insVal
ENST00000652744.1:n.159_161dup
ENST00000416683.5:c.1960-275_1960-273dup
ENST00000450053.7:c.3822_3824dup	ENSP00000415034.2:p.Val1275_Arg1276insVal
NM_015175.2:c.3822_3824dup , LRG_568t1:c.3822_3824dup	NP_055990.1:p.Val1275_Arg1276insVal
XM_005264992.2:c.3720_3722dup	XP_005265049.1:p.Val1241_Arg1242insVal
XM_005264993.2:c.294_296dup	XP_005265050.1:p.Val99_Arg100insVal
XM_006713072.2:c.3741_3743dup	XP_006713135.1:p.Val1248_Arg1249insVal
XM_011533532.1:c.3801_3803dup	XP_011531834.1:p.Val1268_Arg1269insVal
XM_011533533.1:c.3822_3824dup	XP_011531835.1:p.Val1275_Arg1276insVal
XM_011533534.1:c.3453_3455dup	XP_011531836.1:p.Val1152_Arg1153insVal
XM_011533535.1:c.3282_3284dup	XP_011531837.1:p.Val1095_Arg1096insVal
XM_011533536.1:c.3168_3170dup	XP_011531838.1:p.Val1057_Arg1058insVal
XM_011533537.1:c.2730_2732dup	XP_011531839.1:p.Val911_Arg912insVal
XR_940397.1:n.3998_4000dup
XR_940398.1:n.3998_4000dup
NM_001365116.1:c.3720_3722dup	NP_001352045.1:p.Val1241_Arg1242insVal
XM_006713072.3:c.3741_3743dup	XP_006713135.1:p.Val1248_Arg1249insVal
XM_011533533.2:c.3822_3824dup	XP_011531835.1:p.Val1275_Arg1276insVal
XM_017006010.1:c.3822_3824dup	XP_016861499.1:p.Val1275_Arg1276insVal
XM_017006011.1:c.3801_3803dup	XP_016861500.1:p.Val1268_Arg1269insVal
XM_017006012.1:c.3741_3743dup	XP_016861501.1:p.Val1248_Arg1249insVal
XM_017006013.1:c.3822_3824dup	XP_016861502.1:p.Val1275_Arg1276insVal
XM_017006014.1:c.3720_3722dup	XP_016861503.1:p.Val1241_Arg1242insVal
XM_017006015.1:c.3453_3455dup	XP_016861504.1:p.Val1152_Arg1153insVal
XM_017006016.1:c.3282_3284dup	XP_016861505.1:p.Val1095_Arg1096insVal
XM_017006017.1:c.294_296dup	XP_016861506.1:p.Val99_Arg100insVal
XR_940397.2:n.3998_4000dup
NM_001365116.2:c.3720_3722dup	NP_001352045.1:p.Val1241_Arg1242insVal
NM_015175.3:c.3822_3824dup MANE Select	NP_055990.1:p.Val1275_Arg1276insVal