Canonical Allele Identifier: CA352516779

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000135-T-C
• MyVariant Identifiers: chr3:g.47041625T>C (hg19) ; chr3:g.47000135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000135T>C , CM000665.2:g.47000135T>C	GRCh38
NC_000003.11:g.47041625T>C , CM000665.1:g.47041625T>C	GRCh37
NC_000003.10:g.47016629T>C	NCBI36
NG_031914.1:g.25453T>C , LRG_568:g.25453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4036T>C MANE Select	ENSP00000415034.2:p.Tyr1346His
ENST00000651747.1:c.3934T>C	ENSP00000499216.1:p.Tyr1312His
ENST00000652744.1:n.373T>C
ENST00000416683.5:c.1960-61T>C
ENST00000450053.7:c.4036T>C	ENSP00000415034.2:p.Tyr1346His
NM_015175.2:c.4036T>C , LRG_568t1:c.4036T>C	NP_055990.1:p.Tyr1346His
XM_005264992.2:c.3934T>C	XP_005265049.1:p.Tyr1312His
XM_005264993.2:c.508T>C	XP_005265050.1:p.Tyr170His
XM_006713072.2:c.3955T>C	XP_006713135.1:p.Tyr1319His
XM_011533532.1:c.4015T>C	XP_011531834.1:p.Tyr1339His
XM_011533533.1:c.4036T>C	XP_011531835.1:p.Tyr1346His
XM_011533534.1:c.3667T>C	XP_011531836.1:p.Tyr1223His
XM_011533535.1:c.3496T>C	XP_011531837.1:p.Tyr1166His
XM_011533536.1:c.3382T>C	XP_011531838.1:p.Tyr1128His
XM_011533537.1:c.2944T>C	XP_011531839.1:p.Tyr982His
XR_940397.1:n.4212T>C
XR_940398.1:n.4212T>C
NM_001365116.1:c.3934T>C	NP_001352045.1:p.Tyr1312His
XM_006713072.3:c.3955T>C	XP_006713135.1:p.Tyr1319His
XM_011533533.2:c.4036T>C	XP_011531835.1:p.Tyr1346His
XM_017006010.1:c.4036T>C	XP_016861499.1:p.Tyr1346His
XM_017006011.1:c.4015T>C	XP_016861500.1:p.Tyr1339His
XM_017006012.1:c.3955T>C	XP_016861501.1:p.Tyr1319His
XM_017006013.1:c.4036T>C	XP_016861502.1:p.Tyr1346His
XM_017006014.1:c.3934T>C	XP_016861503.1:p.Tyr1312His
XM_017006015.1:c.3667T>C	XP_016861504.1:p.Tyr1223His
XM_017006016.1:c.3496T>C	XP_016861505.1:p.Tyr1166His
XM_017006017.1:c.508T>C	XP_016861506.1:p.Tyr170His
XR_940397.2:n.4212T>C
NM_001365116.2:c.3934T>C	NP_001352045.1:p.Tyr1312His
NM_015175.3:c.4036T>C MANE Select	NP_055990.1:p.Tyr1346His