Canonical Allele Identifier: CA991094524

Gene: BCL2

Linked Data

• dbSNP Id: rs8083727
• gnomAD v3: 18-63291347-G-T
• gnomAD v4: 18-63291347-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63291347G>T , CM000680.2:g.63291347G>T	GRCh38
NC_000018.9:g.60958580G>T , CM000680.1:g.60958580G>T	GRCh37
NC_000018.8:g.59109560G>T	NCBI36
NG_009361.1:g.33034C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333681.5:c.585+26735C>A MANE Select	ENSP00000329623.3:n.585+26735C>A
ENST00000677227.1:c.586-10133C>A	ENSP00000504566.1:n.586-10133C>A
ENST00000678134.1:c.789+10315C>A	ENSP00000503628.1:n.789+10315C>A
ENST00000678349.1:c.1137+26183C>A	ENSP00000504190.1:n.1137+26183C>A
ENST00000333681.4:c.585+26735C>A	ENSP00000329623.3:n.585+26735C>A
ENST00000398117.1:c.585+26735C>A	ENSP00000381185.1:n.585+26735C>A
NM_000633.2:c.585+26735C>A	NP_000624.2:n.585+26735C>A
XR_935246.1:n.1698-10133C>A
XR_935247.1:n.1698-10133C>A
XR_935248.1:n.1477-10133C>A
XR_935248.3:n.1979-10133C>A
NM_000633.3:c.585+26735C>A MANE Select	NP_000624.2:n.585+26735C>A