Canonical Allele Identifier: CA352517195

Gene: NBEAL2

Linked Data

• dbSNP Id: rs2036881796
• gnomAD v3: 3-47000343-A-C
• gnomAD v4: 3-47000343-A-C
• MyVariant Identifiers: chr3:g.47041833A>C (hg19) ; chr3:g.47000343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000343A>C , CM000665.2:g.47000343A>C	GRCh38
NC_000003.11:g.47041833A>C , CM000665.1:g.47041833A>C	GRCh37
NC_000003.10:g.47016837A>C	NCBI36
NG_031914.1:g.25661A>C , LRG_568:g.25661A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4244A>C MANE Select	ENSP00000415034.2:p.Asp1415Ala
ENST00000651747.1:c.4142A>C	ENSP00000499216.1:p.Asp1381Ala
ENST00000416683.5:c.2107A>C
ENST00000450053.7:c.4244A>C	ENSP00000415034.2:p.Asp1415Ala
NM_015175.2:c.4244A>C , LRG_568t1:c.4244A>C	NP_055990.1:p.Asp1415Ala
XM_005264992.2:c.4142A>C	XP_005265049.1:p.Asp1381Ala
XM_005264993.2:c.716A>C	XP_005265050.1:p.Asp239Ala
XM_006713072.2:c.4163A>C	XP_006713135.1:p.Asp1388Ala
XM_011533532.1:c.4223A>C	XP_011531834.1:p.Asp1408Ala
XM_011533533.1:c.4244A>C	XP_011531835.1:p.Asp1415Ala
XM_011533534.1:c.3875A>C	XP_011531836.1:p.Asp1292Ala
XM_011533535.1:c.3704A>C	XP_011531837.1:p.Asp1235Ala
XM_011533536.1:c.3590A>C	XP_011531838.1:p.Asp1197Ala
XM_011533537.1:c.3152A>C	XP_011531839.1:p.Asp1051Ala
XR_940397.1:n.4420A>C
XR_940398.1:n.4420A>C
NM_001365116.1:c.4142A>C	NP_001352045.1:p.Asp1381Ala
XM_006713072.3:c.4163A>C	XP_006713135.1:p.Asp1388Ala
XM_011533533.2:c.4244A>C	XP_011531835.1:p.Asp1415Ala
XM_017006010.1:c.4244A>C	XP_016861499.1:p.Asp1415Ala
XM_017006011.1:c.4223A>C	XP_016861500.1:p.Asp1408Ala
XM_017006012.1:c.4163A>C	XP_016861501.1:p.Asp1388Ala
XM_017006013.1:c.4244A>C	XP_016861502.1:p.Asp1415Ala
XM_017006014.1:c.4142A>C	XP_016861503.1:p.Asp1381Ala
XM_017006015.1:c.3875A>C	XP_016861504.1:p.Asp1292Ala
XM_017006016.1:c.3704A>C	XP_016861505.1:p.Asp1235Ala
XM_017006017.1:c.716A>C	XP_016861506.1:p.Asp239Ala
XR_940397.2:n.4420A>C
NM_001365116.2:c.4142A>C	NP_001352045.1:p.Asp1381Ala
NM_015175.3:c.4244A>C MANE Select	NP_055990.1:p.Asp1415Ala