Canonical Allele Identifier: CA657488275

Gene: BCL2

Linked Data

• dbSNP Id: rs1913601760
• gnomAD v4: 18-63318883-G-A
• COSMIC: COSN25472572

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63318883G>A , CM000680.2:g.63318883G>A	GRCh38
NC_000018.9:g.60986116G>A , CM000680.1:g.60986116G>A	GRCh37
NC_000018.8:g.59137096G>A	NCBI36
NG_009361.1:g.5498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.-217C>T MANE Select	ENSP00000329623.3:n.-217C>T
ENST00000333681.4:c.-217C>T	ENSP00000329623.3:n.-217C>T
ENST00000398117.1:c.-217C>T	ENSP00000381185.1:n.-217C>T
NM_000633.2:c.-217C>T	NP_000624.2:n.-217C>T
NM_000657.2:c.-217C>T	NP_000648.2:n.-217C>T
XM_011526135.1:c.-217C>T	XP_011524437.1:n.-217C>T
XR_935246.1:n.896C>T
XR_935247.1:n.896C>T
XR_935248.1:n.675C>T
XM_011526135.3:c.-217C>T	XP_011524437.1:n.-217C>T
XM_017025917.2:c.-217C>T	XP_016881406.1:n.-217C>T
XR_935248.3:n.1177C>T
NM_000633.3:c.-217C>T MANE Select	NP_000624.2:n.-217C>T
NM_000657.3:c.-217C>T	NP_000648.2:n.-217C>T