Canonical Allele Identifier: CA64088382

Gene: NBEAL1

Linked Data

• dbSNP Id: rs758111237
• gnomAD v4: 2-203016350-T-A
• MyVariant Identifiers: chr2:g.203881073T>A (hg19) ; chr2:g.203016350T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203016350T>A , CM000664.2:g.203016350T>A	GRCh38
NC_000002.11:g.203881073T>A , CM000664.1:g.203881073T>A	GRCh37
NC_000002.10:g.203589318T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463830.2:n.310T>A
ENST00000682077.1:n.312T>A
ENST00000682333.1:n.310T>A
ENST00000682787.1:c.-35T>A	ENSP00000507858.1:n.-35T>A
ENST00000683091.1:c.-35T>A	ENSP00000506951.1:n.-35T>A
ENST00000683927.1:n.299T>A
ENST00000683969.1:c.-35T>A MANE Select	ENSP00000508055.1:n.-35T>A
ENST00000449802.5:c.-35T>A	ENSP00000399903.1:n.-35T>A
ENST00000478884.5:n.253T>A
ENST00000492870.1:n.269T>A
ENST00000497505.5:n.299T>A
NM_001114132.1:c.-35T>A	NP_001107604.1:n.-35T>A
XM_005246787.2:c.-35T>A	XP_005246844.1:n.-35T>A
XM_006712698.2:c.-35T>A	XP_006712761.1:n.-35T>A
XM_006712699.2:c.-35T>A	XP_006712762.1:n.-35T>A
XM_006712700.2:c.-35T>A	XP_006712763.1:n.-35T>A
XM_011511658.1:c.-35T>A	XP_011509960.1:n.-35T>A
XM_011511659.1:c.-35T>A	XP_011509961.1:n.-35T>A
XM_011511663.1:c.-35T>A	XP_011509965.1:n.-35T>A
XM_011511664.1:c.-35T>A	XP_011509966.1:n.-35T>A
XM_005246787.4:c.-35T>A	XP_005246844.1:n.-35T>A
XM_006712698.4:c.-35T>A	XP_006712761.1:n.-35T>A
XM_006712699.4:c.-35T>A	XP_006712762.1:n.-35T>A
XM_011511658.3:c.-35T>A	XP_011509960.1:n.-35T>A
XM_011511659.2:c.-35T>A	XP_011509961.1:n.-35T>A
XM_011511663.3:c.-35T>A	XP_011509965.1:n.-35T>A
NM_001114132.2:c.-35T>A	NP_001107604.1:n.-35T>A
NM_001378026.1:c.-35T>A MANE Select	NP_001364955.1:n.-35T>A