Canonical Allele Identifier: CA402633310

Gene: BCL2

Linked Data

• gnomAD v4: 18-63318663-C-T
• COSMIC: COSM220164 ; COSM220950 ; COSM5652522
• MyVariant Identifiers: chr18:g.60985896C>T (hg19) ; chr18:g.63318663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63318663C>T , CM000680.2:g.63318663C>T	GRCh38
NC_000018.9:g.60985896C>T , CM000680.1:g.60985896C>T	GRCh37
NC_000018.8:g.59136876C>T	NCBI36
NG_009361.1:g.5718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.4G>A MANE Select	ENSP00000329623.3:p.Ala2Thr
ENST00000677227.1:c.4G>A	ENSP00000504566.1:p.Ala2Thr
ENST00000678134.1:c.4G>A	ENSP00000503628.1:p.Ala2Thr
ENST00000678349.1:c.4G>A	ENSP00000504190.1:p.Ala2Thr
ENST00000333681.4:c.4G>A	ENSP00000329623.3:p.Ala2Thr
ENST00000398117.1:c.4G>A	ENSP00000381185.1:p.Ala2Thr
ENST00000589955.2:c.4G>A	ENSP00000466417.1:p.Ala2Thr
NM_000633.2:c.4G>A	NP_000624.2:p.Ala2Thr
NM_000657.2:c.4G>A	NP_000648.2:p.Ala2Thr
XM_011526135.1:c.4G>A	XP_011524437.1:p.Ala2Thr
XR_935246.1:n.1116G>A
XR_935247.1:n.1116G>A
XR_935248.1:n.895G>A
XM_011526135.3:c.4G>A	XP_011524437.1:p.Ala2Thr
XM_017025917.2:c.4G>A	XP_016881406.1:p.Ala2Thr
XR_935248.3:n.1397G>A
NM_000633.3:c.4G>A MANE Select	NP_000624.2:p.Ala2Thr
NM_000657.3:c.4G>A	NP_000648.2:p.Ala2Thr