Canonical Allele Identifier: CA302010259

Gene: BCL2

Linked Data

• dbSNP Id: rs932689294
• gnomAD v2: 18-60820491-G-A
• gnomAD v3: 18-63153258-G-A
• gnomAD v4: 18-63153258-G-A
• MyVariant Identifiers: chr18:g.60820491G>A (hg19) ; chr18:g.63153258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63153258G>A , CM000680.2:g.63153258G>A	GRCh38
NC_000018.9:g.60820491G>A , CM000680.1:g.60820491G>A	GRCh37
NC_000018.8:g.58971471G>A	NCBI36
NG_009361.1:g.171123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.586-24499C>T MANE Select	ENSP00000329623.3:n.586-24499C>T
ENST00000677227.1:c.914-24499C>T	ENSP00000504566.1:n.914-24499C>T
ENST00000678134.1:c.790-24499C>T	ENSP00000503628.1:n.790-24499C>T
ENST00000678301.1:c.24+4815C>T	ENSP00000504546.1:n.24+4815C>T
ENST00000678349.1:c.1138-24499C>T	ENSP00000504190.1:n.1138-24499C>T
ENST00000333681.4:c.586-24499C>T	ENSP00000329623.3:n.586-24499C>T
ENST00000398117.1:c.586-24499C>T	ENSP00000381185.1:n.586-24499C>T
ENST00000590515.1:n.24+8588C>T
NM_000633.2:c.586-24499C>T	NP_000624.2:n.586-24499C>T
XR_935246.1:n.2026-24499C>T
XR_935248.1:n.1805-24499C>T
XR_935248.3:n.2307-24499C>T
NM_000633.3:c.586-24499C>T MANE Select	NP_000624.2:n.586-24499C>T