Canonical Allele Identifier: CA526666183

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1455604557
• gnomAD v2: 1-154544144-TCA-T
• gnomAD v4: 1-154571668-TCA-T
• MyVariant Identifiers: chr1:g.154544145_154544146del (hg19) ; chr1:g.154571669_154571670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571669_154571670del , CM000663.2:g.154571669_154571670del	GRCh38
NC_000001.10:g.154544145_154544146del , CM000663.1:g.154544145_154544146del	GRCh37
NC_000001.9:g.152810769_152810770del	NCBI36
NG_008027.1:g.8889_8890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.846_847del MANE Select	ENSP00000357461.3:p.Ile283LeufsTer?
ENST00000636034.1:c.846_847del	ENSP00000489703.1:p.Ile283LeufsTer?
ENST00000637900.1:c.852_853del	ENSP00000490474.1:p.Ile285LeufsTer?
ENST00000368476.3:c.846_847del	ENSP00000357461.3:p.Ile283LeufsTer?
NM_000748.2:c.846_847del	NP_000739.1:p.Ile283LeufsTer?
XM_017000180.2:c.336_337del	XP_016855669.1:p.Ile113LeufsTer?
XR_001736952.2:n.1098_1099del
NM_000748.3:c.846_847del MANE Select	NP_000739.1:p.Ile283LeufsTer?