Canonical Allele Identifier: CA991090365

Gene: BCL2

Linked Data

• dbSNP Id: rs1912257216
• gnomAD v3: 18-63279767-C-T
• gnomAD v4: 18-63279767-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63279767C>T , CM000680.2:g.63279767C>T	GRCh38
NC_000018.9:g.60947000C>T , CM000680.1:g.60947000C>T	GRCh37
NC_000018.8:g.59097980C>T	NCBI36
NG_009361.1:g.44614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.585+38315G>A MANE Select	ENSP00000329623.3:n.585+38315G>A
ENST00000677227.1:c.913+1120G>A	ENSP00000504566.1:n.913+1120G>A
ENST00000678134.1:c.789+21895G>A	ENSP00000503628.1:n.789+21895G>A
ENST00000678349.1:c.1137+37763G>A	ENSP00000504190.1:n.1137+37763G>A
ENST00000333681.4:c.585+38315G>A	ENSP00000329623.3:n.585+38315G>A
ENST00000398117.1:c.585+38315G>A	ENSP00000381185.1:n.585+38315G>A
NM_000633.2:c.585+38315G>A	NP_000624.2:n.585+38315G>A
XR_935246.1:n.2025+1120G>A
XR_935247.1:n.2025+1120G>A
XR_935248.1:n.1804+1120G>A
XR_935248.3:n.2306+1120G>A
NM_000633.3:c.585+38315G>A MANE Select	NP_000624.2:n.585+38315G>A