Canonical Allele Identifier: CA914288610

Gene: BSG

Linked Data

• dbSNP Id: rs565509602
• gnomAD v2: 19-582998-C-G
• gnomAD v3: 19-582998-C-G
• gnomAD v4: 19-582998-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.582998C>G , CM000681.2:g.582998C>G	GRCh38
NC_000019.9:g.582998C>G , CM000681.1:g.582998C>G	GRCh37
NC_000019.8:g.533998C>G	NCBI36
NG_007468.1:g.16674C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.*254C>G MANE Select	ENSP00000333769.3:n.*254C>G
ENST00000346916.9:c.*254C>G	ENSP00000344707.4:n.*254C>G
ENST00000353555.9:c.*254C>G	ENSP00000343809.4:n.*254C>G
ENST00000571735.3:n.1647C>G
ENST00000573784.6:c.*254C>G	ENSP00000473393.2:n.*254C>G
ENST00000576925.4:n.1849C>G
ENST00000576984.3:c.*254C>G	ENSP00000473528.2:n.*254C>G
ENST00000618112.4:c.1054C>G	ENSP00000495088.2:n.1054C>G
ENST00000679472.1:c.*160C>G	ENSP00000505067.1:n.*160C>G
ENST00000680065.1:c.*250C>G	ENSP00000506020.1:n.*250C>G
ENST00000680326.1:c.*254C>G	ENSP00000505863.1:n.*254C>G
ENST00000680552.1:c.*254C>G	ENSP00000506321.1:n.*254C>G
ENST00000333511.7:c.*254C>G	ENSP00000333769.3:n.*254C>G
ENST00000346916.8:c.*254C>G	ENSP00000344707.3:n.*254C>G
ENST00000353555.8:c.*254C>G	ENSP00000343809.4:n.*254C>G
ENST00000545507.6:c.*254C>G	ENSP00000473664.1:n.*254C>G
ENST00000571735.2:n.1661C>G
ENST00000614867.2:c.*291C>G	ENSP00000484624.1:n.*291C>G
ENST00000618006.4:c.*254C>G	ENSP00000478958.1:n.*254C>G
ENST00000618112.2:n.337C>G
NM_001728.3:c.*254C>G	NP_001719.2:n.*254C>G
NM_198589.2:c.*254C>G	NP_940991.1:n.*254C>G
NM_198590.2:c.*254C>G	NP_940992.1:n.*254C>G
NM_198591.2:c.*254C>G	NP_940993.1:n.*254C>G
XM_005259619.1:c.*250C>G	XP_005259676.1:n.*250C>G
NM_001322243.1:c.*250C>G	NP_001309172.1:n.*250C>G
XM_017027173.2:c.*250C>G	XP_016882662.1:n.*250C>G
NM_001322243.2:c.*250C>G	NP_001309172.1:n.*250C>G
NM_001728.4:c.*254C>G MANE Select	NP_001719.2:n.*254C>G
NM_198589.3:c.*254C>G	NP_940991.1:n.*254C>G
NM_198590.3:c.*254C>G	NP_940992.1:n.*254C>G
NM_198591.3:c.*254C>G	NP_940993.1:n.*254C>G
NM_198591.4:c.*254C>G	NP_940993.2:n.*254C>G