Canonical Allele Identifier: CA73809637

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1032080905
• gnomAD v4: 3-46995664-T-C
• MyVariant Identifiers: chr3:g.47037154T>C (hg19) ; chr3:g.46995664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995664T>C , CM000665.2:g.46995664T>C	GRCh38
NC_000003.11:g.47037154T>C , CM000665.1:g.47037154T>C	GRCh37
NC_000003.10:g.47012158T>C	NCBI36
NG_031914.1:g.20982T>C , LRG_568:g.20982T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.1898+31T>C MANE Select	ENSP00000415034.2:n.1898+31T>C
ENST00000651747.1:c.1796+31T>C	ENSP00000499216.1:n.1796+31T>C
ENST00000416683.5:c.313+31T>C
ENST00000450053.7:c.1898+31T>C	ENSP00000415034.2:n.1898+31T>C
NM_015175.2:c.1898+31T>C , LRG_568t1:c.1898+31T>C	NP_055990.1:n.1898+31T>C
XM_005264992.2:c.1796+31T>C	XP_005265049.1:n.1796+31T>C
XM_006713072.2:c.1817+31T>C	XP_006713135.1:n.1817+31T>C
XM_011533532.1:c.1877+31T>C	XP_011531834.1:n.1877+31T>C
XM_011533533.1:c.1898+31T>C	XP_011531835.1:n.1898+31T>C
XM_011533534.1:c.1529+31T>C	XP_011531836.1:n.1529+31T>C
XM_011533535.1:c.1358+31T>C	XP_011531837.1:n.1358+31T>C
XM_011533536.1:c.1244+31T>C	XP_011531838.1:n.1244+31T>C
XM_011533537.1:c.806+31T>C	XP_011531839.1:n.806+31T>C
XR_940397.1:n.2074+31T>C
XR_940398.1:n.2074+31T>C
NM_001365116.1:c.1796+31T>C	NP_001352045.1:n.1796+31T>C
XM_006713072.3:c.1817+31T>C	XP_006713135.1:n.1817+31T>C
XM_011533533.2:c.1898+31T>C	XP_011531835.1:n.1898+31T>C
XM_017006010.1:c.1898+31T>C	XP_016861499.1:n.1898+31T>C
XM_017006011.1:c.1877+31T>C	XP_016861500.1:n.1877+31T>C
XM_017006012.1:c.1817+31T>C	XP_016861501.1:n.1817+31T>C
XM_017006013.1:c.1898+31T>C	XP_016861502.1:n.1898+31T>C
XM_017006014.1:c.1796+31T>C	XP_016861503.1:n.1796+31T>C
XM_017006015.1:c.1529+31T>C	XP_016861504.1:n.1529+31T>C
XM_017006016.1:c.1358+31T>C	XP_016861505.1:n.1358+31T>C
XR_940397.2:n.2074+31T>C
NM_001365116.2:c.1796+31T>C	NP_001352045.1:n.1796+31T>C
NM_015175.3:c.1898+31T>C MANE Select	NP_055990.1:n.1898+31T>C