Canonical Allele Identifier: CA352516986

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000238-T-C
• MyVariant Identifiers: chr3:g.47041728T>C (hg19) ; chr3:g.47000238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000238T>C , CM000665.2:g.47000238T>C	GRCh38
NC_000003.11:g.47041728T>C , CM000665.1:g.47041728T>C	GRCh37
NC_000003.10:g.47016732T>C	NCBI36
NG_031914.1:g.25556T>C , LRG_568:g.25556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4139T>C MANE Select	ENSP00000415034.2:p.Leu1380Pro
ENST00000651747.1:c.4037T>C	ENSP00000499216.1:p.Leu1346Pro
ENST00000652744.1:n.476T>C
ENST00000416683.5:c.2002T>C
ENST00000450053.7:c.4139T>C	ENSP00000415034.2:p.Leu1380Pro
NM_015175.2:c.4139T>C , LRG_568t1:c.4139T>C	NP_055990.1:p.Leu1380Pro
XM_005264992.2:c.4037T>C	XP_005265049.1:p.Leu1346Pro
XM_005264993.2:c.611T>C	XP_005265050.1:p.Leu204Pro
XM_006713072.2:c.4058T>C	XP_006713135.1:p.Leu1353Pro
XM_011533532.1:c.4118T>C	XP_011531834.1:p.Leu1373Pro
XM_011533533.1:c.4139T>C	XP_011531835.1:p.Leu1380Pro
XM_011533534.1:c.3770T>C	XP_011531836.1:p.Leu1257Pro
XM_011533535.1:c.3599T>C	XP_011531837.1:p.Leu1200Pro
XM_011533536.1:c.3485T>C	XP_011531838.1:p.Leu1162Pro
XM_011533537.1:c.3047T>C	XP_011531839.1:p.Leu1016Pro
XR_940397.1:n.4315T>C
XR_940398.1:n.4315T>C
NM_001365116.1:c.4037T>C	NP_001352045.1:p.Leu1346Pro
XM_006713072.3:c.4058T>C	XP_006713135.1:p.Leu1353Pro
XM_011533533.2:c.4139T>C	XP_011531835.1:p.Leu1380Pro
XM_017006010.1:c.4139T>C	XP_016861499.1:p.Leu1380Pro
XM_017006011.1:c.4118T>C	XP_016861500.1:p.Leu1373Pro
XM_017006012.1:c.4058T>C	XP_016861501.1:p.Leu1353Pro
XM_017006013.1:c.4139T>C	XP_016861502.1:p.Leu1380Pro
XM_017006014.1:c.4037T>C	XP_016861503.1:p.Leu1346Pro
XM_017006015.1:c.3770T>C	XP_016861504.1:p.Leu1257Pro
XM_017006016.1:c.3599T>C	XP_016861505.1:p.Leu1200Pro
XM_017006017.1:c.611T>C	XP_016861506.1:p.Leu204Pro
XR_940397.2:n.4315T>C
NM_001365116.2:c.4037T>C	NP_001352045.1:p.Leu1346Pro
NM_015175.3:c.4139T>C MANE Select	NP_055990.1:p.Leu1380Pro