Canonical Allele Identifier: CA9017868

Gene: BSG

Linked Data

• ClinVar Variation Id: 2484043
• ClinVar RCV Id: RCV004274676
• dbSNP Id: rs567629506
• ExAC: 19:580441 C / T
• gnomAD v2: 19-580441-C-T
• gnomAD v3: 19-580441-C-T
• gnomAD v4: 19-580441-C-T
• MyVariant Identifiers: chr19:g.580441C>T (hg19) ; chr19:g.580441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580441C>T , CM000681.2:g.580441C>T	GRCh38
NC_000019.9:g.580441C>T , CM000681.1:g.580441C>T	GRCh37
NC_000019.8:g.531441C>T	NCBI36
NG_007468.1:g.14117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.635C>T MANE Select	ENSP00000333769.3:p.Thr212Met
ENST00000346916.9:c.8C>T	ENSP00000344707.4:p.Thr3Met
ENST00000353555.9:c.287C>T	ENSP00000343809.4:p.Thr96Met
ENST00000571735.3:n.870C>T
ENST00000572899.6:n.328C>T
ENST00000573784.6:c.8C>T	ENSP00000473393.2:p.Thr3Met
ENST00000576925.4:n.1072C>T
ENST00000576984.3:c.8C>T	ENSP00000473528.2:p.Thr3Met
ENST00000613627.5:c.130C>T	ENSP00000484849.2:p.Arg44Trp
ENST00000618112.4:c.287C>T	ENSP00000495088.2:p.Thr96Met
ENST00000679472.1:c.8C>T	ENSP00000505067.1:p.Thr3Met
ENST00000680065.1:c.8C>T	ENSP00000506020.1:p.Thr3Met
ENST00000680326.1:c.278C>T	ENSP00000505863.1:p.Thr93Met
ENST00000680552.1:c.287C>T	ENSP00000506321.1:p.Thr96Met
ENST00000333511.7:c.635C>T	ENSP00000333769.3:p.Thr212Met
ENST00000346916.8:c.95C>T	ENSP00000344707.3:p.Thr32Met
ENST00000353555.8:c.287C>T	ENSP00000343809.4:p.Thr96Met
ENST00000545507.6:c.8C>T	ENSP00000473664.1:p.Thr3Met
ENST00000571735.2:n.884C>T
ENST00000572899.5:n.328C>T
ENST00000573216.5:c.263C>T	ENSP00000458665.1:p.Thr88Met
ENST00000573784.5:c.8C>T	ENSP00000473393.1:p.Thr3Met
ENST00000576984.2:c.8C>T	ENSP00000473528.1:p.Thr3Met
ENST00000613627.4:c.278C>T	ENSP00000484849.1:p.Thr93Met
ENST00000614867.2:c.147+862C>T	ENSP00000484624.1:n.147+862C>T
ENST00000618006.4:c.68-205C>T	ENSP00000478958.1:n.68-205C>T
NM_001728.3:c.635C>T	NP_001719.2:p.Thr212Met
NM_198589.2:c.287C>T	NP_940991.1:p.Thr96Met
NM_198590.2:c.8C>T	NP_940992.1:p.Thr3Met
NM_198591.2:c.95C>T	NP_940993.1:p.Thr32Met
XM_005259619.1:c.287C>T	XP_005259676.1:p.Thr96Met
NM_001322243.1:c.287C>T	NP_001309172.1:p.Thr96Met
XM_017027173.2:c.635C>T	XP_016882662.1:p.Thr212Met
NM_001322243.2:c.287C>T	NP_001309172.1:p.Thr96Met
NM_001728.4:c.635C>T MANE Select	NP_001719.2:p.Thr212Met
NM_198589.3:c.287C>T	NP_940991.1:p.Thr96Met
NM_198590.3:c.8C>T	NP_940992.1:p.Thr3Met
NM_198591.3:c.95C>T	NP_940993.1:p.Thr32Met
NM_198591.4:c.8C>T	NP_940993.2:p.Thr3Met