Canonical Allele Identifier: CA9017865

Gene: BSG

Linked Data

• dbSNP Id: rs758959711
• ExAC: 19:580427 C / G
• gnomAD v2: 19-580427-C-G
• gnomAD v4: 19-580427-C-G
• MyVariant Identifiers: chr19:g.580427C>G (hg19) ; chr19:g.580427C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580427C>G , CM000681.2:g.580427C>G	GRCh38
NC_000019.9:g.580427C>G , CM000681.1:g.580427C>G	GRCh37
NC_000019.8:g.531427C>G	NCBI36
NG_007468.1:g.14103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.621C>G MANE Select	ENSP00000333769.3:p.Pro207=
ENST00000346916.9:c.-7C>G	ENSP00000344707.4:n.-7C>G
ENST00000353555.9:c.273C>G	ENSP00000343809.4:p.Pro91=
ENST00000571735.3:n.856C>G
ENST00000572899.6:n.314C>G
ENST00000573784.6:c.-7C>G	ENSP00000473393.2:n.-7C>G
ENST00000576925.4:n.1058C>G
ENST00000576984.3:c.-7C>G	ENSP00000473528.2:n.-7C>G
ENST00000613627.5:c.116C>G	ENSP00000484849.2:p.Pro39Arg
ENST00000618112.4:c.273C>G	ENSP00000495088.2:p.Pro91=
ENST00000679472.1:c.-7C>G	ENSP00000505067.1:n.-7C>G
ENST00000680065.1:c.-7C>G	ENSP00000506020.1:n.-7C>G
ENST00000680326.1:c.264C>G	ENSP00000505863.1:p.Pro88=
ENST00000680552.1:c.273C>G	ENSP00000506321.1:p.Pro91=
ENST00000333511.7:c.621C>G	ENSP00000333769.3:p.Pro207=
ENST00000346916.8:c.81C>G	ENSP00000344707.3:p.Pro27=
ENST00000353555.8:c.273C>G	ENSP00000343809.4:p.Pro91=
ENST00000545507.6:c.-7C>G	ENSP00000473664.1:n.-7C>G
ENST00000571735.2:n.870C>G
ENST00000572899.5:n.314C>G
ENST00000573216.5:c.249C>G	ENSP00000458665.1:p.Pro83=
ENST00000573784.5:c.-7C>G	ENSP00000473393.1:n.-7C>G
ENST00000576984.2:c.-7C>G	ENSP00000473528.1:n.-7C>G
ENST00000613627.4:c.264C>G	ENSP00000484849.1:p.Pro88=
ENST00000614867.2:c.147+848C>G	ENSP00000484624.1:n.147+848C>G
ENST00000618006.4:c.68-219C>G	ENSP00000478958.1:n.68-219C>G
NM_001728.3:c.621C>G	NP_001719.2:p.Pro207=
NM_198589.2:c.273C>G	NP_940991.1:p.Pro91=
NM_198590.2:c.-7C>G	NP_940992.1:n.-7C>G
NM_198591.2:c.81C>G	NP_940993.1:p.Pro27=
XM_005259619.1:c.273C>G	XP_005259676.1:p.Pro91=
NM_001322243.1:c.273C>G	NP_001309172.1:p.Pro91=
XM_017027173.2:c.621C>G	XP_016882662.1:p.Pro207=
NM_001322243.2:c.273C>G	NP_001309172.1:p.Pro91=
NM_001728.4:c.621C>G MANE Select	NP_001719.2:p.Pro207=
NM_198589.3:c.273C>G	NP_940991.1:p.Pro91=
NM_198590.3:c.-7C>G	NP_940992.1:n.-7C>G
NM_198591.3:c.81C>G	NP_940993.1:p.Pro27=
NM_198591.4:c.-7C>G	NP_940993.2:n.-7C>G