Canonical Allele Identifier: CA8985931

Gene: BCL2

Linked Data

• dbSNP Id: rs773580172
• ExAC: 18:60985891 G / A
• gnomAD v2: 18-60985891-G-A
• gnomAD v3: 18-63318658-G-A
• gnomAD v4: 18-63318658-G-A
• COSMIC: COSM5056093 ; COSM5056094 ; COSM5056095
• MyVariant Identifiers: chr18:g.60985891G>A (hg19) ; chr18:g.63318658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63318658G>A , CM000680.2:g.63318658G>A	GRCh38
NC_000018.9:g.60985891G>A , CM000680.1:g.60985891G>A	GRCh37
NC_000018.8:g.59136871G>A	NCBI36
NG_009361.1:g.5723C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333681.5:c.9C>T MANE Select	ENSP00000329623.3:p.His3=
ENST00000677227.1:c.9C>T	ENSP00000504566.1:p.His3=
ENST00000678134.1:c.9C>T	ENSP00000503628.1:p.His3=
ENST00000678349.1:c.9C>T	ENSP00000504190.1:p.His3=
ENST00000333681.4:c.9C>T	ENSP00000329623.3:p.His3=
ENST00000398117.1:c.9C>T	ENSP00000381185.1:p.His3=
ENST00000589955.2:c.9C>T	ENSP00000466417.1:p.His3=
NM_000633.2:c.9C>T	NP_000624.2:p.His3=
NM_000657.2:c.9C>T	NP_000648.2:p.His3=
XM_011526135.1:c.9C>T	XP_011524437.1:p.His3=
XR_935246.1:n.1121C>T
XR_935247.1:n.1121C>T
XR_935248.1:n.900C>T
XM_011526135.3:c.9C>T	XP_011524437.1:p.His3=
XM_017025917.2:c.9C>T	XP_016881406.1:p.His3=
XR_935248.3:n.1402C>T
NM_000633.3:c.9C>T MANE Select	NP_000624.2:p.His3=
NM_000657.3:c.9C>T	NP_000648.2:p.His3=