Canonical Allele Identifier: CA14520777
Gene: BCL2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.63126316C>T
GRCh37 chr18:g.60793549C>T
gnomAD v2:
18:60793549 C / T
gnomAD v3:
18:63126316 C / T
gnomAD v4:
chr18-63126316-C-T
Joint Max Group AF 0.09154388 (NFE)
Genomes Max Group AF 0.09090281 (NFE)
Exomes Max Group AF 0.09099143 (NFE)
dbSNP:
4987855
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63126316C>T , CM000680.2:g.63126316C>T GRCh38
NC_000018.9:g.60793549C>T , CM000680.1:g.60793549C>T GRCh37
NC_000018.8:g.58944529C>T NCBI36
NG_009361.1:g.198065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333681.5:c.*2309G>A MANE Select ENSP00000329623.3:n.*2309G>A
ENST00000677635.1:n.2593G>A
ENST00000678134.1:c.3233G>A ENSP00000503628.1:n.3233G>A
ENST00000678301.1:c.*2309G>A ENSP00000504546.1:n.*2309G>A
ENST00000678349.1:c.3581G>A ENSP00000504190.1:n.3581G>A
ENST00000398117.1:c.*2309G>A ENSP00000381185.1:n.*2309G>A
NM_000633.2:c.*2309G>A NP_000624.2:n.*2309G>A
NM_000633.3:c.*2309G>A MANE Select NP_000624.2:n.*2309G>A
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