Canonical Allele Identifier: CA526666202

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544178-C-CACA
• gnomAD v4: 1-154571702-C-CACA
• MyVariant Identifiers: chr1:g.154544179_154544180delinsACAGT (hg19) ; chr1:g.154571703_154571704delinsACAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571702_154571703insACA , CM000663.2:g.154571702_154571703insACA	GRCh38
NC_000001.10:g.154544178_154544179insACA , CM000663.1:g.154544178_154544179insACA	GRCh37
NC_000001.9:g.152810802_152810803insACA	NCBI36
NG_008027.1:g.8922_8923insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.879_880insACA MANE Select	ENSP00000357461.3:p.Asp293_Val294insThr
ENST00000636034.1:c.879_880insACA	ENSP00000489703.1:p.Asp293_Val294insThr
ENST00000637900.1:c.885_886insACA	ENSP00000490474.1:p.Asp295_Val296insThr
ENST00000368476.3:c.879_880insACA	ENSP00000357461.3:p.Asp293_Val294insThr
NM_000748.2:c.879_880insACA	NP_000739.1:p.Asp293_Val294insThr
XM_017000180.2:c.369_370insACA	XP_016855669.1:p.Asp123_Val124insThr
XR_001736952.2:n.1131_1132insACA
NM_000748.3:c.879_880insACA MANE Select	NP_000739.1:p.Asp293_Val294insThr