Canonical Allele Identifier: CA49021256

Gene: BCL11A

Linked Data

• dbSNP Id: rs938545591
• gnomAD v3: 2-60493144-G-T
• gnomAD v4: 2-60493144-G-T
• MyVariant Identifiers: chr2:g.60720279G>T (hg19) ; chr2:g.60493144G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60493144G>T , CM000664.2:g.60493144G>T	GRCh38
NC_000002.11:g.60720279G>T , CM000664.1:g.60720279G>T	GRCh37
NC_000002.10:g.60573783G>T	NCBI36
NG_011968.1:g.65355C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000335712.11:c.386-30720C>A	ENSP00000338774.7:n.386-30720C>A
ENST00000356842.9:c.386-24311C>A	ENSP00000349300.4:n.386-24311C>A
ENST00000358510.6:c.386-30720C>A	ENSP00000351307.5:n.386-30720C>A
ENST00000359629.10:c.386-24311C>A	ENSP00000352648.5:n.386-24311C>A
ENST00000489516.7:c.380-24311C>A	ENSP00000488390.2:n.380-24311C>A
ENST00000492272.6:n.228-24311C>A
ENST00000642384.2:c.386-24311C>A MANE Select	ENSP00000496168.1:n.386-24311C>A
ENST00000642439.1:c.386-30720C>A	ENSP00000493484.1:n.386-30720C>A
ENST00000643222.1:c.371-30720C>A	ENSP00000495862.1:n.371-30720C>A
ENST00000643459.1:c.371-24311C>A	ENSP00000494996.1:n.371-24311C>A
ENST00000644606.1:n.425-24311C>A
ENST00000645455.1:n.202-24311C>A
ENST00000646249.1:c.386-30720C>A	ENSP00000495759.1:n.386-30720C>A
ENST00000647472.1:c.232-14905C>A
ENST00000335712.10:c.386-24311C>A	ENSP00000338774.6:n.386-24311C>A
ENST00000356842.8:c.386-24311C>A	ENSP00000349300.4:n.386-24311C>A
ENST00000358510.5:c.386-30720C>A	ENSP00000351307.4:n.386-30720C>A
ENST00000359629.9:c.386-24311C>A	ENSP00000352648.5:n.386-24311C>A
ENST00000477659.1:n.69-24311C>A
ENST00000489516.6:c.230-24311C>A	ENSP00000488390.1:n.230-24311C>A
ENST00000492272.5:n.228-24311C>A
ENST00000631857.1:c.*100+15462C>A	ENSP00000488886.1:n.*100+15462C>A
NM_018014.3:c.386-24311C>A	NP_060484.2:n.386-24311C>A
NM_022893.3:c.386-24311C>A	NP_075044.2:n.386-24311C>A
NM_138559.1:c.386-24311C>A	NP_612569.1:n.386-24311C>A
XM_011532909.1:c.386-24311C>A	XP_011531211.1:n.386-24311C>A
XM_011532910.1:c.386-24311C>A	XP_011531212.1:n.386-24311C>A
XM_011532911.1:c.386-30720C>A	XP_011531213.1:n.386-30720C>A
XM_011532912.1:c.386-30720C>A	XP_011531214.1:n.386-30720C>A
XM_011532913.1:c.380-24311C>A	XP_011531215.1:n.380-24311C>A
XM_011532914.1:c.380-30720C>A	XP_011531216.1:n.380-30720C>A
XM_011532915.1:c.52+23283C>A	XP_011531217.1:n.52+23283C>A
NM_001363864.1:c.386-30720C>A	NP_001350793.1:n.386-30720C>A
NM_001365609.1:c.386-30720C>A	NP_001352538.1:n.386-30720C>A
XM_017004333.1:c.380-24311C>A	XP_016859822.1:n.380-24311C>A
XM_017004335.1:c.380-30720C>A	XP_016859824.1:n.380-30720C>A
XM_017004336.1:c.52+23283C>A	XP_016859825.1:n.52+23283C>A
XM_024452962.1:c.230-24311C>A	XP_024308730.1:n.230-24311C>A
XM_024452963.1:c.230-24311C>A	XP_024308731.1:n.230-24311C>A
NM_018014.4:c.386-24311C>A	NP_060484.2:n.386-24311C>A
NM_022893.4:c.386-24311C>A MANE Select	NP_075044.2:n.386-24311C>A
NM_138559.2:c.386-24311C>A	NP_612569.1:n.386-24311C>A