Canonical Allele Identifier: CA352512912

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46998228T>G , CM000665.2:g.46998228T>G	GRCh38
NC_000003.11:g.47039718T>G , CM000665.1:g.47039718T>G	GRCh37
NC_000003.10:g.47014722T>G	NCBI36
NG_031914.1:g.23546T>G , LRG_568:g.23546T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.3118+2T>G MANE Select	NP_055990.1:n.3118+2T>G
ENST00000450053.8:c.3118+2T>G MANE Select	ENSP00000415034.2:n.3118+2T>G
NM_001365116.1:c.3016+2T>G	NP_001352045.1:n.3016+2T>G
NM_001365116.2:c.3016+2T>G	NP_001352045.1:n.3016+2T>G
NM_015175.2:c.3118+2T>G , LRG_568t1:c.3118+2T>G	NP_055990.1:n.3118+2T>G
ENST00000416683.5:c.1533+2T>G
ENST00000450053.7:c.3118+2T>G	ENSP00000415034.2:n.3118+2T>G
ENST00000651747.1:c.3016+2T>G	ENSP00000499216.1:n.3016+2T>G
XM_005264992.2:c.3016+2T>G	XP_005265049.1:n.3016+2T>G
XM_006713072.2:c.3037+2T>G	XP_006713135.1:n.3037+2T>G
XM_006713072.3:c.3037+2T>G	XP_006713135.1:n.3037+2T>G
XM_011533532.1:c.3097+2T>G	XP_011531834.1:n.3097+2T>G
XM_011533533.1:c.3118+2T>G	XP_011531835.1:n.3118+2T>G
XM_011533533.2:c.3118+2T>G	XP_011531835.1:n.3118+2T>G
XM_011533534.1:c.2749+2T>G	XP_011531836.1:n.2749+2T>G
XM_011533535.1:c.2578+2T>G	XP_011531837.1:n.2578+2T>G
XM_011533536.1:c.2464+2T>G	XP_011531838.1:n.2464+2T>G
XM_011533537.1:c.2026+2T>G	XP_011531839.1:n.2026+2T>G
XM_017006010.1:c.3118+2T>G	XP_016861499.1:n.3118+2T>G
XM_017006011.1:c.3097+2T>G	XP_016861500.1:n.3097+2T>G
XM_017006012.1:c.3037+2T>G	XP_016861501.1:n.3037+2T>G
XM_017006013.1:c.3118+2T>G	XP_016861502.1:n.3118+2T>G
XM_017006014.1:c.3016+2T>G	XP_016861503.1:n.3016+2T>G
XM_017006015.1:c.2749+2T>G	XP_016861504.1:n.2749+2T>G
XM_017006016.1:c.2578+2T>G	XP_016861505.1:n.2578+2T>G
XR_940397.1:n.3294+2T>G
XR_940397.2:n.3294+2T>G
XR_940398.1:n.3294+2T>G