Canonical Allele Identifier: CA2584179652

Gene: BSG

Linked Data

• gnomAD v4: 19-582990-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.582990G>A , CM000681.2:g.582990G>A	GRCh38
NC_000019.9:g.582990G>A , CM000681.1:g.582990G>A	GRCh37
NC_000019.8:g.533990G>A	NCBI36
NG_007468.1:g.16666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.*246G>A MANE Select	ENSP00000333769.3:n.*246G>A
ENST00000346916.9:c.*246G>A	ENSP00000344707.4:n.*246G>A
ENST00000353555.9:c.*246G>A	ENSP00000343809.4:n.*246G>A
ENST00000571735.3:n.1639G>A
ENST00000573784.6:c.*246G>A	ENSP00000473393.2:n.*246G>A
ENST00000576925.4:n.1841G>A
ENST00000576984.3:c.*246G>A	ENSP00000473528.2:n.*246G>A
ENST00000618112.4:c.1046G>A	ENSP00000495088.2:n.1046G>A
ENST00000679472.1:c.*152G>A	ENSP00000505067.1:n.*152G>A
ENST00000680065.1:c.*242G>A	ENSP00000506020.1:n.*242G>A
ENST00000680326.1:c.*246G>A	ENSP00000505863.1:n.*246G>A
ENST00000680552.1:c.*246G>A	ENSP00000506321.1:n.*246G>A
ENST00000333511.7:c.*246G>A	ENSP00000333769.3:n.*246G>A
ENST00000346916.8:c.*246G>A	ENSP00000344707.3:n.*246G>A
ENST00000353555.8:c.*246G>A	ENSP00000343809.4:n.*246G>A
ENST00000545507.6:c.*246G>A	ENSP00000473664.1:n.*246G>A
ENST00000571735.2:n.1653G>A
ENST00000614867.2:c.*283G>A	ENSP00000484624.1:n.*283G>A
ENST00000618006.4:c.*246G>A	ENSP00000478958.1:n.*246G>A
ENST00000618112.2:n.329G>A
NM_001728.3:c.*246G>A	NP_001719.2:n.*246G>A
NM_198589.2:c.*246G>A	NP_940991.1:n.*246G>A
NM_198590.2:c.*246G>A	NP_940992.1:n.*246G>A
NM_198591.2:c.*246G>A	NP_940993.1:n.*246G>A
XM_005259619.1:c.*242G>A	XP_005259676.1:n.*242G>A
NM_001322243.1:c.*242G>A	NP_001309172.1:n.*242G>A
XM_017027173.2:c.*242G>A	XP_016882662.1:n.*242G>A
NM_001322243.2:c.*242G>A	NP_001309172.1:n.*242G>A
NM_001728.4:c.*246G>A MANE Select	NP_001719.2:n.*246G>A
NM_198589.3:c.*246G>A	NP_940991.1:n.*246G>A
NM_198590.3:c.*246G>A	NP_940992.1:n.*246G>A
NM_198591.3:c.*246G>A	NP_940993.1:n.*246G>A
NM_198591.4:c.*246G>A	NP_940993.2:n.*246G>A