Canonical Allele Identifier: CA781291234

Gene: BCL2

Linked Data

• dbSNP Id: rs1243651841
• MyVariant Identifiers: chr18:g.60946943C>A (hg19) ; chr18:g.63279710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63279710C>A , CM000680.2:g.63279710C>A	GRCh38
NC_000018.9:g.60946943C>A , CM000680.1:g.60946943C>A	GRCh37
NC_000018.8:g.59097923C>A	NCBI36
NG_009361.1:g.44671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.585+38372G>T MANE Select	ENSP00000329623.3:n.585+38372G>T
ENST00000677227.1:c.913+1177G>T	ENSP00000504566.1:n.913+1177G>T
ENST00000678134.1:c.789+21952G>T	ENSP00000503628.1:n.789+21952G>T
ENST00000678349.1:c.1137+37820G>T	ENSP00000504190.1:n.1137+37820G>T
ENST00000333681.4:c.585+38372G>T	ENSP00000329623.3:n.585+38372G>T
ENST00000398117.1:c.585+38372G>T	ENSP00000381185.1:n.585+38372G>T
NM_000633.2:c.585+38372G>T	NP_000624.2:n.585+38372G>T
XR_935246.1:n.2025+1177G>T
XR_935247.1:n.2025+1177G>T
XR_935248.1:n.1804+1177G>T
XR_935248.3:n.2306+1177G>T
NM_000633.3:c.585+38372G>T MANE Select	NP_000624.2:n.585+38372G>T