Canonical Allele Identifier: CA2573131094

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 1416407
• ClinVar RCV Id: RCV001935691
• dbSNP Id: rs2101521229

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571670dup , CM000663.2:g.154571670dup	GRCh38
NC_000001.10:g.154544146dup , CM000663.1:g.154544146dup	GRCh37
NC_000001.9:g.152810770dup	NCBI36
NG_008027.1:g.8890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.847dup MANE Select	ENSP00000357461.3:p.Ile283AsnfsTer?
ENST00000636034.1:c.847dup	ENSP00000489703.1:p.Ile283AsnfsTer?
ENST00000637900.1:c.853dup	ENSP00000490474.1:p.Ile285AsnfsTer?
ENST00000368476.3:c.847dup	ENSP00000357461.3:p.Ile283AsnfsTer?
NM_000748.2:c.847dup	NP_000739.1:p.Ile283AsnfsTer?
XM_017000180.2:c.337dup	XP_016855669.1:p.Ile113AsnfsTer?
XR_001736952.2:n.1099dup
NM_000748.3:c.847dup MANE Select	NP_000739.1:p.Ile283AsnfsTer?