Canonical Allele Identifier: CA630127400

Gene: BCL2

Linked Data

• dbSNP Id: rs1237345792
• gnomAD v2: 18-60947084-A-C
• gnomAD v3: 18-63279851-A-C
• gnomAD v4: 18-63279851-A-C
• MyVariant Identifiers: chr18:g.60947084A>C (hg19) ; chr18:g.63279851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63279851A>C , CM000680.2:g.63279851A>C	GRCh38
NC_000018.9:g.60947084A>C , CM000680.1:g.60947084A>C	GRCh37
NC_000018.8:g.59098064A>C	NCBI36
NG_009361.1:g.44530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333681.5:c.585+38231T>G MANE Select	ENSP00000329623.3:n.585+38231T>G
ENST00000677227.1:c.913+1036T>G	ENSP00000504566.1:n.913+1036T>G
ENST00000678134.1:c.789+21811T>G	ENSP00000503628.1:n.789+21811T>G
ENST00000678349.1:c.1137+37679T>G	ENSP00000504190.1:n.1137+37679T>G
ENST00000333681.4:c.585+38231T>G	ENSP00000329623.3:n.585+38231T>G
ENST00000398117.1:c.585+38231T>G	ENSP00000381185.1:n.585+38231T>G
NM_000633.2:c.585+38231T>G	NP_000624.2:n.585+38231T>G
XR_935246.1:n.2025+1036T>G
XR_935247.1:n.2025+1036T>G
XR_935248.1:n.1804+1036T>G
XR_935248.3:n.2306+1036T>G
NM_000633.3:c.585+38231T>G MANE Select	NP_000624.2:n.585+38231T>G