Canonical Allele Identifier: CA2648170602

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571683-TGCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571684_154571688del , CM000663.2:g.154571684_154571688del	GRCh38
NC_000001.10:g.154544160_154544164del , CM000663.1:g.154544160_154544164del	GRCh37
NC_000001.9:g.152810784_152810788del	NCBI36
NG_008027.1:g.8904_8908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.861_865del MANE Select	ENSP00000357461.3:p.Pro288HisfsTer?
ENST00000636034.1:c.861_865del	ENSP00000489703.1:p.Pro288HisfsTer?
ENST00000637900.1:c.867_871del	ENSP00000490474.1:p.Pro290HisfsTer?
ENST00000368476.3:c.861_865del	ENSP00000357461.3:p.Pro288HisfsTer?
NM_000748.2:c.861_865del	NP_000739.1:p.Pro288HisfsTer?
XM_017000180.2:c.351_355del	XP_016855669.1:p.Pro118HisfsTer?
XR_001736952.2:n.1113_1117del
NM_000748.3:c.861_865del MANE Select	NP_000739.1:p.Pro288HisfsTer?