Canonical Allele Identifier: CA2746189172

Gene: CHRNB2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571693_154571700del , CM000663.2:g.154571693_154571700del	GRCh38
NC_000001.10:g.154544169_154544176del , CM000663.1:g.154544169_154544176del	GRCh37
NC_000001.9:g.152810793_152810800del	NCBI36
NG_008027.1:g.8913_8920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.870_877del MANE Select	ENSP00000357461.3:p.Ser291ArgfsTer?
ENST00000636034.1:c.870_877del	ENSP00000489703.1:p.Ser291ArgfsTer?
ENST00000637900.1:c.876_883del	ENSP00000490474.1:p.Ser293ArgfsTer?
ENST00000368476.3:c.870_877del	ENSP00000357461.3:p.Ser291ArgfsTer?
NM_000748.2:c.870_877del	NP_000739.1:p.Ser291ArgfsTer?
XM_017000180.2:c.360_367del	XP_016855669.1:p.Ser121ArgfsTer?
XR_001736952.2:n.1122_1129del
NM_000748.3:c.870_877del MANE Select	NP_000739.1:p.Ser291ArgfsTer?