Canonical Allele Identifier: CA2595783431

Gene: BCL2

Linked Data

• dbSNP Id: rs2144327214
• gnomAD v3: 18-63318848-A-G
• gnomAD v4: 18-63318848-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63318848A>G , CM000680.2:g.63318848A>G	GRCh38
NC_000018.9:g.60986081A>G , CM000680.1:g.60986081A>G	GRCh37
NC_000018.8:g.59137061A>G	NCBI36
NG_009361.1:g.5533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.-182T>C MANE Select	ENSP00000329623.3:n.-182T>C
ENST00000333681.4:c.-182T>C	ENSP00000329623.3:n.-182T>C
ENST00000398117.1:c.-182T>C	ENSP00000381185.1:n.-182T>C
NM_000633.2:c.-182T>C	NP_000624.2:n.-182T>C
NM_000657.2:c.-182T>C	NP_000648.2:n.-182T>C
XM_011526135.1:c.-182T>C	XP_011524437.1:n.-182T>C
XR_935246.1:n.931T>C
XR_935247.1:n.931T>C
XR_935248.1:n.710T>C
XM_011526135.3:c.-182T>C	XP_011524437.1:n.-182T>C
XM_017025917.2:c.-182T>C	XP_016881406.1:n.-182T>C
XR_935248.3:n.1212T>C
NM_000633.3:c.-182T>C MANE Select	NP_000624.2:n.-182T>C
NM_000657.3:c.-182T>C	NP_000648.2:n.-182T>C