Canonical Allele Identifier: CA14520854
Gene: BCL2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.63319604G>T
GRCh37 chr18:g.60986837G>T
gnomAD v2:
18:60986837 G / T
gnomAD v3:
18:63319604 G / T
gnomAD v4:
chr18-63319604-G-T
Joint Max Group AF 0.56131381 (AMR)
Genomes Max Group AF 0.55566487 (AMR)
Exomes Max Group AF 0.5785003 (AMR)
dbSNP:
2279115
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.63319604G>T , CM000680.2:g.63319604G>T GRCh38
NC_000018.9:g.60986837G>T , CM000680.1:g.60986837G>T GRCh37
NC_000018.8:g.59137817G>T NCBI36
NG_009361.1:g.4777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333681.5:c.-717C>A MANE Select ENSP00000329623.3:n.-717C>A
ENST00000333681.4:c.-717C>A ENSP00000329623.3:n.-717C>A
ENST00000398117.1:c.-938C>A ENSP00000381185.1:n.-938C>A
XM_011526135.1:c.-938C>A XP_011524437.1:n.-938C>A
XR_935246.1:n.175C>A
XR_935247.1:n.175C>A
XR_935248.1:n.175C>A
XM_011526135.3:c.-938C>A XP_011524437.1:n.-938C>A
XM_017025917.2:c.-717C>A XP_016881406.1:n.-717C>A
XR_935248.3:n.677C>A
NM_000633.3:c.-717C>A MANE Select NP_000624.2:n.-717C>A
NM_000657.3:c.-717C>A NP_000648.2:n.-717C>A
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