Canonical Allele Identifier: CA352517339

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000384-T-G
• MyVariant Identifiers: chr3:g.47041874T>G (hg19) ; chr3:g.47000384T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000384T>G , CM000665.2:g.47000384T>G	GRCh38
NC_000003.11:g.47041874T>G , CM000665.1:g.47041874T>G	GRCh37
NC_000003.10:g.47016878T>G	NCBI36
NG_031914.1:g.25702T>G , LRG_568:g.25702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4285T>G MANE Select	ENSP00000415034.2:p.Ser1429Ala
ENST00000651747.1:c.4183T>G	ENSP00000499216.1:p.Ser1395Ala
ENST00000416683.5:c.2148T>G
ENST00000450053.7:c.4285T>G	ENSP00000415034.2:p.Ser1429Ala
NM_015175.2:c.4285T>G , LRG_568t1:c.4285T>G	NP_055990.1:p.Ser1429Ala
XM_005264992.2:c.4183T>G	XP_005265049.1:p.Ser1395Ala
XM_005264993.2:c.757T>G	XP_005265050.1:p.Ser253Ala
XM_006713072.2:c.4204T>G	XP_006713135.1:p.Ser1402Ala
XM_011533532.1:c.4264T>G	XP_011531834.1:p.Ser1422Ala
XM_011533533.1:c.4285T>G	XP_011531835.1:p.Ser1429Ala
XM_011533534.1:c.3916T>G	XP_011531836.1:p.Ser1306Ala
XM_011533535.1:c.3745T>G	XP_011531837.1:p.Ser1249Ala
XM_011533536.1:c.3631T>G	XP_011531838.1:p.Ser1211Ala
XM_011533537.1:c.3193T>G	XP_011531839.1:p.Ser1065Ala
XR_940397.1:n.4461T>G
XR_940398.1:n.4461T>G
NM_001365116.1:c.4183T>G	NP_001352045.1:p.Ser1395Ala
XM_006713072.3:c.4204T>G	XP_006713135.1:p.Ser1402Ala
XM_011533533.2:c.4285T>G	XP_011531835.1:p.Ser1429Ala
XM_017006010.1:c.4285T>G	XP_016861499.1:p.Ser1429Ala
XM_017006011.1:c.4264T>G	XP_016861500.1:p.Ser1422Ala
XM_017006012.1:c.4204T>G	XP_016861501.1:p.Ser1402Ala
XM_017006013.1:c.4285T>G	XP_016861502.1:p.Ser1429Ala
XM_017006014.1:c.4183T>G	XP_016861503.1:p.Ser1395Ala
XM_017006015.1:c.3916T>G	XP_016861504.1:p.Ser1306Ala
XM_017006016.1:c.3745T>G	XP_016861505.1:p.Ser1249Ala
XM_017006017.1:c.757T>G	XP_016861506.1:p.Ser253Ala
XR_940397.2:n.4461T>G
NM_001365116.2:c.4183T>G	NP_001352045.1:p.Ser1395Ala
NM_015175.3:c.4285T>G MANE Select	NP_055990.1:p.Ser1429Ala