Canonical Allele Identifier: CA781310933

Gene: BCL2

Linked Data

• dbSNP Id: rs1182949080
• gnomAD v3: 18-63318811-C-T
• gnomAD v4: 18-63318811-C-T
• MyVariant Identifiers: chr18:g.60986044C>T (hg19) ; chr18:g.63318811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63318811C>T , CM000680.2:g.63318811C>T	GRCh38
NC_000018.9:g.60986044C>T , CM000680.1:g.60986044C>T	GRCh37
NC_000018.8:g.59137024C>T	NCBI36
NG_009361.1:g.5570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.-145G>A MANE Select	ENSP00000329623.3:n.-145G>A
ENST00000333681.4:c.-145G>A	ENSP00000329623.3:n.-145G>A
ENST00000398117.1:c.-145G>A	ENSP00000381185.1:n.-145G>A
ENST00000589955.2:c.-145G>A	ENSP00000466417.1:n.-145G>A
NM_000633.2:c.-145G>A	NP_000624.2:n.-145G>A
NM_000657.2:c.-145G>A	NP_000648.2:n.-145G>A
XM_011526135.1:c.-145G>A	XP_011524437.1:n.-145G>A
XR_935246.1:n.968G>A
XR_935247.1:n.968G>A
XR_935248.1:n.747G>A
XM_011526135.3:c.-145G>A	XP_011524437.1:n.-145G>A
XM_017025917.2:c.-145G>A	XP_016881406.1:n.-145G>A
XR_935248.3:n.1249G>A
NM_000633.3:c.-145G>A MANE Select	NP_000624.2:n.-145G>A
NM_000657.3:c.-145G>A	NP_000648.2:n.-145G>A