Canonical Allele Identifier: CA11252286
Gene: BOLA3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.74142024A>T
GRCh37 chr2:g.74369151A>T
gnomAD v2:
2:74369151 A / T
gnomAD v3:
2:74142024 A / T
gnomAD v4:
chr2-74142024-A-T
Joint Max Group AF 0.81277526 (AFR)
Genomes Max Group AF 0.81277526 (AFR)
ClinVar RCV:
RCV000843576
ClinVar Variation:
683414
dbSNP:
702465
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74142024A>T , CM000664.2:g.74142024A>T GRCh38
NC_000002.11:g.74369151A>T , CM000664.1:g.74369151A>T GRCh37
NC_000002.10:g.74222659A>T NCBI36
NG_031910.1:g.10889T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.258+248T>A MANE Select ENSP00000331369.5:n.258+248T>A
ENST00000295326.4:c.169+3165T>A ENSP00000295326.4:n.169+3165T>A
ENST00000327428.9:c.258+248T>A ENSP00000331369.5:n.258+248T>A
ENST00000469676.1:n.1192+3165T>A
ENST00000477685.5:n.409+248T>A
ENST00000484655.1:n.2724+3165T>A
NM_001035505.1:c.169+3165T>A NP_001030582.1:n.169+3165T>A
NM_212552.2:c.258+248T>A NP_997717.2:n.258+248T>A
NM_212552.3:c.258+248T>A MANE Select NP_997717.2:n.258+248T>A
NM_001035505.2:c.169+3165T>A NP_001030582.1:n.169+3165T>A
Search 100 bp 5'
Search 100 bp 3'