Canonical Allele Identifier: CA16040861
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 371035
ClinVar RCV Id: RCV002523865
dbSNP Id: rs1057516954
gnomAD v2: 2-219526270-T-C
gnomAD v4: 2-218661547-T-C
MyVariant Identifiers: chr2:g.219526270T>C (hg19) chr2:g.218661547T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218661547T>C , CM000664.2:g.218661547T>C GRCh38
NC_000002.11:g.219526270T>C , CM000664.1:g.219526270T>C GRCh37
NC_000002.10:g.219234514T>C NCBI36
NG_008018.1:g.6892T>C , LRG_539:g.6892T>C
NG_033099.1:g.2994A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000359273.8:c.460+2T>C MANE Select ENSP00000352219.3:n.460+2T>C
ENST00000392111.7:c.460+2T>C ENSP00000375959.2:n.460+2T>C
ENST00000359273.7:c.460+2T>C ENSP00000352219.3:n.460+2T>C
ENST00000392109.5:c.460+2T>C ENSP00000375957.1:n.460+2T>C
ENST00000392110.6:c.460+2T>C ENSP00000375958.2:n.460+2T>C
ENST00000392111.6:c.460+2T>C ENSP00000375959.2:n.460+2T>C
ENST00000412366.5:c.460+2T>C ENSP00000406494.1:n.460+2T>C
ENST00000430322.5:c.460+2T>C ENSP00000398957.1:n.460+2T>C
ENST00000431802.5:c.460+2T>C ENSP00000413908.1:n.460+2T>C
ENST00000439945.5:c.460+2T>C ENSP00000404999.1:n.460+2T>C
ENST00000443791.5:c.100+2T>C ENSP00000412729.1:n.100+2T>C
ENST00000456050.5:c.460+2T>C ENSP00000395440.1:n.460+2T>C
ENST00000471576.5:n.457+27T>C
NM_001079866.1:c.460+2T>C NP_001073335.1:n.460+2T>C
NM_001257342.1:c.460+2T>C NP_001244271.1:n.460+2T>C
NM_001257343.1:c.460+2T>C NP_001244272.1:n.460+2T>C
NM_001257344.1:c.460+2T>C , LRG_539t2:c.460+2T>C NP_001244273.1:n.460+2T>C
NM_004328.4:c.460+2T>C , LRG_539t1:c.460+2T>C NP_004319.1:n.460+2T>C
XM_005246747.3:c.460+2T>C XP_005246804.1:n.460+2T>C
XM_005246748.1:c.-42+27T>C XP_005246805.1:n.-42+27T>C
XM_005246749.3:c.-41-212T>C XP_005246806.1:n.-41-212T>C
XM_006712678.1:c.460+2T>C XP_006712741.1:n.460+2T>C
XM_011511587.1:c.460+2T>C XP_011509889.1:n.460+2T>C
XM_011511588.1:c.100+2T>C XP_011509890.1:n.100+2T>C
XR_427105.1:n.1402+2T>C
NM_001318836.1:c.100+2T>C NP_001305765.1:n.100+2T>C
NM_001320717.1:c.460+2T>C NP_001307646.1:n.460+2T>C
XM_005246748.3:c.-42+27T>C XP_005246805.1:n.-42+27T>C
XM_017004631.1:c.460+2T>C XP_016860120.1:n.460+2T>C
XM_017004632.1:c.460+2T>C XP_016860121.1:n.460+2T>C
XM_017004633.2:c.-42+27T>C XP_016860122.1:n.-42+27T>C
XM_017004634.2:c.-42+27T>C XP_016860123.1:n.-42+27T>C
XR_427105.3:n.1472+2T>C
NM_001079866.2:c.460+2T>C MANE Select NP_001073335.1:n.460+2T>C
NM_001257342.2:c.460+2T>C NP_001244271.1:n.460+2T>C
NM_001257343.2:c.460+2T>C NP_001244272.1:n.460+2T>C
NM_001257344.2:c.460+2T>C NP_001244273.1:n.460+2T>C
NM_001318836.2:c.100+2T>C NP_001305765.1:n.100+2T>C
NM_001320717.2:c.460+2T>C NP_001307646.1:n.460+2T>C
NM_001371443.1:c.460+2T>C NP_001358372.1:n.460+2T>C
NM_001371444.1:c.460+2T>C NP_001358373.1:n.460+2T>C
NM_001371446.1:c.460+2T>C NP_001358375.1:n.460+2T>C
NM_001371447.1:c.460+2T>C NP_001358376.1:n.460+2T>C
NM_001371448.1:c.460+2T>C NP_001358377.1:n.460+2T>C
NM_001371449.1:c.460+2T>C NP_001358378.1:n.460+2T>C
NM_001371450.1:c.460+2T>C NP_001358379.1:n.460+2T>C
NM_001371451.1:c.100+2T>C NP_001358380.1:n.100+2T>C
NM_001371452.1:c.-41-212T>C NP_001358381.1:n.-41-212T>C
NM_001371453.1:c.-42+27T>C NP_001358382.1:n.-42+27T>C
NM_001371454.1:c.-42+27T>C NP_001358383.1:n.-42+27T>C
NM_001371455.1:c.-42+27T>C NP_001358384.1:n.-42+27T>C
NM_001371456.1:c.-42+27T>C NP_001358385.1:n.-42+27T>C
NM_001374085.1:c.460+2T>C NP_001361014.1:n.460+2T>C
NM_001374086.1:c.-42+27T>C NP_001361015.1:n.-42+27T>C
NM_004328.5:c.460+2T>C NP_004319.1:n.460+2T>C
NR_163955.1:n.1472+2T>C
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