Canonical Allele Identifier: CA10612818

Gene: BCS1L

Linked Data

• ClinVar Variation Id: 334354
• ClinVar RCV Id: RCV000291289 ; RCV000346257 ; RCV000385604 ; RCV000676998
• dbSNP Id: rs188224298
• gnomAD v2: 2-219524924-T-G
• gnomAD v3: 2-218660201-T-G
• gnomAD v4: 2-218660201-T-G
• MyVariant Identifiers: chr2:g.219524924T>G (hg19) ; chr2:g.218660201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218660201T>G , CM000664.2:g.218660201T>G	GRCh38
NC_000002.11:g.219524924T>G , CM000664.1:g.219524924T>G	GRCh37
NC_000002.10:g.219233168T>G	NCBI36
NG_008018.1:g.5546T>G , LRG_539:g.5546T>G
NG_033099.1:g.4340A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359273.8:c.-50+458T>G MANE Select	ENSP00000352219.3:n.-50+458T>G
ENST00000392111.7:c.-94T>G	ENSP00000375959.2:n.-94T>G
ENST00000643945.1:c.-243T>G	ENSP00000496514.1:n.-243T>G
ENST00000359273.7:c.-50+458T>G	ENSP00000352219.3:n.-50+458T>G
ENST00000392109.5:c.-67T>G	ENSP00000375957.1:n.-67T>G
ENST00000392110.6:c.-50+35T>G	ENSP00000375958.2:n.-50+35T>G
ENST00000392111.6:c.-94T>G	ENSP00000375959.2:n.-94T>G
ENST00000412366.5:c.-50+401T>G	ENSP00000406494.1:n.-50+401T>G
ENST00000423377.5:c.-225-106T>G	ENSP00000397293.1:n.-225-106T>G
ENST00000428880.5:c.-164-106T>G	ENSP00000391007.1:n.-164-106T>G
ENST00000430322.5:c.-49-738T>G	ENSP00000398957.1:n.-49-738T>G
ENST00000431802.5:c.-270T>G	ENSP00000413908.1:n.-270T>G
ENST00000439945.5:c.-164-106T>G	ENSP00000404999.1:n.-164-106T>G
ENST00000443791.5:c.-41+458T>G	ENSP00000412729.1:n.-41+458T>G
ENST00000456050.5:c.-50+678T>G	ENSP00000395440.1:n.-50+678T>G
ENST00000490188.1:n.250T>G
NM_001079866.1:c.-50+458T>G	NP_001073335.1:n.-50+458T>G
NM_001257342.1:c.-50+35T>G	NP_001244271.1:n.-50+35T>G
NM_001257343.1:c.-67T>G	NP_001244272.1:n.-67T>G
NM_001257344.1:c.-50+401T>G , LRG_539t2:c.-50+401T>G	NP_001244273.1:n.-50+401T>G
NM_004328.4:c.-94T>G , LRG_539t1:c.-94T>G	NP_004319.1:n.-94T>G
XM_005246747.3:c.-270T>G	XP_005246804.1:n.-270T>G
XM_005246749.3:c.-42+458T>G	XP_005246806.1:n.-42+458T>G
XM_006712678.1:c.-597T>G	XP_006712741.1:n.-597T>G
XM_011511587.1:c.-164-106T>G	XP_011509889.1:n.-164-106T>G
XM_011511588.1:c.-41+458T>G	XP_011509890.1:n.-41+458T>G
XR_427105.1:n.156T>G
NM_001318836.1:c.-41+458T>G	NP_001305765.1:n.-41+458T>G
NM_001320717.1:c.-164-106T>G	NP_001307646.1:n.-164-106T>G
XM_005246748.3:c.-746T>G	XP_005246805.1:n.-746T>G
XM_017004631.1:c.-270T>G	XP_016860120.1:n.-270T>G
XM_017004632.1:c.-164-106T>G	XP_016860121.1:n.-164-106T>G
XM_017004633.2:c.-1263T>G	XP_016860122.1:n.-1263T>G
XM_017004634.2:c.-526+458T>G	XP_016860123.1:n.-526+458T>G
XR_427105.3:n.226T>G
NM_001079866.2:c.-50+458T>G MANE Select	NP_001073335.1:n.-50+458T>G
NM_001257342.2:c.-50+35T>G	NP_001244271.1:n.-50+35T>G
NM_001257343.2:c.-67T>G	NP_001244272.1:n.-67T>G
NM_001257344.2:c.-50+401T>G	NP_001244273.1:n.-50+401T>G
NM_001318836.2:c.-41+458T>G	NP_001305765.1:n.-41+458T>G
NM_001320717.2:c.-164-106T>G	NP_001307646.1:n.-164-106T>G
NM_001371443.1:c.-164-106T>G	NP_001358372.1:n.-164-106T>G
NM_001371444.1:c.-270T>G	NP_001358373.1:n.-270T>G
NM_001371446.1:c.-597T>G	NP_001358375.1:n.-597T>G
NM_001371447.1:c.-32+458T>G	NP_001358376.1:n.-32+458T>G
NM_001371448.1:c.-164-106T>G	NP_001358377.1:n.-164-106T>G
NM_001371449.1:c.-182T>G	NP_001358378.1:n.-182T>G
NM_001371450.1:c.-270T>G	NP_001358379.1:n.-270T>G
NM_001371451.1:c.-588T>G	NP_001358380.1:n.-588T>G
NM_001371452.1:c.-42+458T>G	NP_001358381.1:n.-42+458T>G
NM_001371453.1:c.-1263T>G	NP_001358382.1:n.-1263T>G
NM_001371454.1:c.-746T>G	NP_001358383.1:n.-746T>G
NM_001371455.1:c.-526+458T>G	NP_001358384.1:n.-526+458T>G
NM_001371456.1:c.-526+35T>G	NP_001358385.1:n.-526+35T>G
NM_001374085.1:c.-787T>G	NP_001361014.1:n.-787T>G
NM_001374086.1:c.-1263T>G	NP_001361015.1:n.-1263T>G
NM_004328.5:c.-94T>G	NP_004319.1:n.-94T>G
NR_163955.1:n.226T>G