Canonical Allele Identifier: CA301768862

Gene: BCL2

Linked Data

• dbSNP Id: rs1049299328
• gnomAD v2: 18-60947052-A-G
• gnomAD v3: 18-63279819-A-G
• gnomAD v4: 18-63279819-A-G
• MyVariant Identifiers: chr18:g.60947052A>G (hg19) ; chr18:g.63279819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63279819A>G , CM000680.2:g.63279819A>G	GRCh38
NC_000018.9:g.60947052A>G , CM000680.1:g.60947052A>G	GRCh37
NC_000018.8:g.59098032A>G	NCBI36
NG_009361.1:g.44562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.585+38263T>C MANE Select	ENSP00000329623.3:n.585+38263T>C
ENST00000677227.1:c.913+1068T>C	ENSP00000504566.1:n.913+1068T>C
ENST00000678134.1:c.789+21843T>C	ENSP00000503628.1:n.789+21843T>C
ENST00000678349.1:c.1137+37711T>C	ENSP00000504190.1:n.1137+37711T>C
ENST00000333681.4:c.585+38263T>C	ENSP00000329623.3:n.585+38263T>C
ENST00000398117.1:c.585+38263T>C	ENSP00000381185.1:n.585+38263T>C
NM_000633.2:c.585+38263T>C	NP_000624.2:n.585+38263T>C
XR_935246.1:n.2025+1068T>C
XR_935247.1:n.2025+1068T>C
XR_935248.1:n.1804+1068T>C
XR_935248.3:n.2306+1068T>C
NM_000633.3:c.585+38263T>C MANE Select	NP_000624.2:n.585+38263T>C