Canonical Allele Identifier: CA781303468

Gene: BCL2

Linked Data

• dbSNP Id: rs1172272115
• gnomAD v3: 18-63305141-C-G
• gnomAD v4: 18-63305141-C-G
• MyVariant Identifiers: chr18:g.60972374C>G (hg19) ; chr18:g.63305141C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63305141C>G , CM000680.2:g.63305141C>G	GRCh38
NC_000018.9:g.60972374C>G , CM000680.1:g.60972374C>G	GRCh37
NC_000018.8:g.59123354C>G	NCBI36
NG_009361.1:g.19240G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333681.5:c.585+12941G>C MANE Select	ENSP00000329623.3:n.585+12941G>C
ENST00000677227.1:c.585+12941G>C	ENSP00000504566.1:n.585+12941G>C
ENST00000678134.1:c.586-3276G>C	ENSP00000503628.1:n.586-3276G>C
ENST00000678349.1:c.1137+12389G>C	ENSP00000504190.1:n.1137+12389G>C
ENST00000333681.4:c.585+12941G>C	ENSP00000329623.3:n.585+12941G>C
ENST00000398117.1:c.585+12941G>C	ENSP00000381185.1:n.585+12941G>C
NM_000633.2:c.585+12941G>C	NP_000624.2:n.585+12941G>C
XM_011526135.1:c.586-2294G>C	XP_011524437.1:n.586-2294G>C
XR_935246.1:n.1697+12941G>C
XR_935247.1:n.1697+12941G>C
XR_935248.1:n.1476+12941G>C
XM_011526135.3:c.586-2294G>C	XP_011524437.1:n.586-2294G>C
XM_017025917.2:c.586-3276G>C	XP_016881406.1:n.586-3276G>C
XR_935248.3:n.1978+12941G>C
NM_000633.3:c.585+12941G>C MANE Select	NP_000624.2:n.585+12941G>C