Canonical Allele Identifier: CA526666196

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1161084831
• gnomAD v2: 1-154544174-TCG-T
• gnomAD v4: 1-154571698-TCG-T
• MyVariant Identifiers: chr1:g.154544175_154544176del (hg19) ; chr1:g.154571699_154571700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571699_154571700del , CM000663.2:g.154571699_154571700del	GRCh38
NC_000001.10:g.154544175_154544176del , CM000663.1:g.154544175_154544176del	GRCh37
NC_000001.9:g.152810799_152810800del	NCBI36
NG_008027.1:g.8919_8920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.876_877del MANE Select	ENSP00000357461.3:p.Asp293ArgfsTer?
ENST00000636034.1:c.876_877del	ENSP00000489703.1:p.Asp293ArgfsTer?
ENST00000637900.1:c.882_883del	ENSP00000490474.1:p.Asp295ArgfsTer?
ENST00000368476.3:c.876_877del	ENSP00000357461.3:p.Asp293ArgfsTer?
NM_000748.2:c.876_877del	NP_000739.1:p.Asp293ArgfsTer?
XM_017000180.2:c.366_367del	XP_016855669.1:p.Asp123ArgfsTer?
XR_001736952.2:n.1128_1129del
NM_000748.3:c.876_877del MANE Select	NP_000739.1:p.Asp293ArgfsTer?