Canonical Allele Identifier: CA991094518

Gene: BCL2

Linked Data

• dbSNP Id: rs1912639791
• gnomAD v3: 18-63291343-T-C
• gnomAD v4: 18-63291343-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63291343T>C , CM000680.2:g.63291343T>C	GRCh38
NC_000018.9:g.60958576T>C , CM000680.1:g.60958576T>C	GRCh37
NC_000018.8:g.59109556T>C	NCBI36
NG_009361.1:g.33038A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333681.5:c.585+26739A>G MANE Select	ENSP00000329623.3:n.585+26739A>G
ENST00000677227.1:c.586-10129A>G	ENSP00000504566.1:n.586-10129A>G
ENST00000678134.1:c.789+10319A>G	ENSP00000503628.1:n.789+10319A>G
ENST00000678349.1:c.1137+26187A>G	ENSP00000504190.1:n.1137+26187A>G
ENST00000333681.4:c.585+26739A>G	ENSP00000329623.3:n.585+26739A>G
ENST00000398117.1:c.585+26739A>G	ENSP00000381185.1:n.585+26739A>G
NM_000633.2:c.585+26739A>G	NP_000624.2:n.585+26739A>G
XR_935246.1:n.1698-10129A>G
XR_935247.1:n.1698-10129A>G
XR_935248.1:n.1477-10129A>G
XR_935248.3:n.1979-10129A>G
NM_000633.3:c.585+26739A>G MANE Select	NP_000624.2:n.585+26739A>G