Canonical Allele Identifier: CA347040474

Gene: BCL11A

Linked Data

• ClinVar Variation Id: 521857
• ClinVar RCV Id: RCV000623290 ; RCV000825006
• dbSNP Id: rs1553352926
• MyVariant Identifiers: chr2:g.60773104A>G (hg19) ; chr2:g.60545969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60545969A>G , CM000664.2:g.60545969A>G	GRCh38
NC_000002.11:g.60773104A>G , CM000664.1:g.60773104A>G	GRCh37
NC_000002.10:g.60626608A>G	NCBI36
NG_011968.1:g.12530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335712.11:c.385+2T>C	ENSP00000338774.7:n.385+2T>C
ENST00000356842.9:c.385+2T>C	ENSP00000349300.4:n.385+2T>C
ENST00000358510.6:c.385+2T>C	ENSP00000351307.5:n.385+2T>C
ENST00000359629.10:c.385+2T>C	ENSP00000352648.5:n.385+2T>C
ENST00000409351.5:c.385+2T>C	ENSP00000487844.1:n.385+2T>C
ENST00000489516.7:c.379+2T>C	ENSP00000488390.2:n.379+2T>C
ENST00000642180.1:c.313+2T>C	ENSP00000493887.1:n.313+2T>C
ENST00000642384.2:c.385+2T>C MANE Select	ENSP00000496168.1:n.385+2T>C
ENST00000642439.1:c.385+2T>C	ENSP00000493484.1:n.385+2T>C
ENST00000643004.1:c.385+2T>C	ENSP00000496736.1:n.385+2T>C
ENST00000643222.1:c.370+2T>C	ENSP00000495862.1:n.370+2T>C
ENST00000643459.1:c.370+2T>C	ENSP00000494996.1:n.370+2T>C
ENST00000643716.1:c.387T>C	ENSP00000494397.1:p.Gly129=
ENST00000644606.1:n.424+2T>C
ENST00000646249.1:c.385+2T>C	ENSP00000495759.1:n.385+2T>C
ENST00000647038.1:n.471T>C
ENST00000647469.1:c.289+2T>C	ENSP00000496304.1:n.289+2T>C
ENST00000647472.1:c.231+2T>C
ENST00000335712.10:c.385+2T>C	ENSP00000338774.6:n.385+2T>C
ENST00000356842.8:c.385+2T>C	ENSP00000349300.4:n.385+2T>C
ENST00000358510.5:c.385+2T>C	ENSP00000351307.4:n.385+2T>C
ENST00000359629.9:c.385+2T>C	ENSP00000352648.5:n.385+2T>C
ENST00000409351.4:c.385+2T>C	ENSP00000487844.1:n.385+2T>C
ENST00000489183.1:n.210+2T>C
ENST00000489516.6:c.229+2T>C	ENSP00000488390.1:n.229+2T>C
ENST00000631857.1:c.385+2T>C	ENSP00000488886.1:n.385+2T>C
NM_018014.3:c.385+2T>C	NP_060484.2:n.385+2T>C
NM_022893.3:c.385+2T>C	NP_075044.2:n.385+2T>C
NM_138559.1:c.385+2T>C	NP_612569.1:n.385+2T>C
XM_011532909.1:c.385+2T>C	XP_011531211.1:n.385+2T>C
XM_011532910.1:c.385+2T>C	XP_011531212.1:n.385+2T>C
XM_011532911.1:c.385+2T>C	XP_011531213.1:n.385+2T>C
XM_011532912.1:c.385+2T>C	XP_011531214.1:n.385+2T>C
XM_011532913.1:c.379+2T>C	XP_011531215.1:n.379+2T>C
XM_011532914.1:c.379+2T>C	XP_011531216.1:n.379+2T>C
XM_011532915.1:c.-41+2T>C	XP_011531217.1:n.-41+2T>C
NM_001363864.1:c.385+2T>C	NP_001350793.1:n.385+2T>C
NM_001365609.1:c.385+2T>C	NP_001352538.1:n.385+2T>C
XM_017004333.1:c.379+2T>C	XP_016859822.1:n.379+2T>C
XM_017004335.1:c.379+2T>C	XP_016859824.1:n.379+2T>C
XM_017004336.1:c.-41+2T>C	XP_016859825.1:n.-41+2T>C
XM_024452962.1:c.229+2T>C	XP_024308730.1:n.229+2T>C
XM_024452963.1:c.229+2T>C	XP_024308731.1:n.229+2T>C
NM_018014.4:c.385+2T>C	NP_060484.2:n.385+2T>C
NM_022893.4:c.385+2T>C MANE Select	NP_075044.2:n.385+2T>C
NM_138559.2:c.385+2T>C	NP_612569.1:n.385+2T>C