Canonical Allele Identifier: CA1719499
Gene: BOLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2084593
ClinVar RCV Id: RCV003011216
dbSNP Id: rs200756528
ExAC: 2:74372392 C / G
gnomAD v2: 2-74372392-C-G
gnomAD v3: 2-74145265-C-G
gnomAD v4: 2-74145265-C-G
MyVariant Identifiers: chr2:g.74372392C>G (hg19) chr2:g.74145265C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145265C>G , CM000664.2:g.74145265C>G GRCh38
NC_000002.11:g.74372392C>G , CM000664.1:g.74372392C>G GRCh37
NC_000002.10:g.74225900C>G NCBI36
NG_031910.1:g.7648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.93G>C MANE Select ENSP00000331369.5:p.Glu31Asp
ENST00000295326.4:c.93G>C ENSP00000295326.4:p.Glu31Asp
ENST00000327428.9:c.93G>C ENSP00000331369.5:p.Glu31Asp
ENST00000469676.1:n.1116G>C
ENST00000477685.5:n.244G>C
ENST00000484655.1:n.2648G>C
NM_001035505.1:c.93G>C NP_001030582.1:p.Glu31Asp
NM_212552.2:c.93G>C NP_997717.2:p.Glu31Asp
NM_212552.3:c.93G>C MANE Select NP_997717.2:p.Glu31Asp
NM_001035505.2:c.93G>C NP_001030582.1:p.Glu31Asp
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