Canonical Allele Identifier: CA526666192

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544170-TCCC-T
• gnomAD v4: 1-154571694-TCCC-T
• MyVariant Identifiers: chr1:g.154544171_154544173del (hg19) ; chr1:g.154571695_154571697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571695_154571697del , CM000663.2:g.154571695_154571697del	GRCh38
NC_000001.10:g.154544171_154544173del , CM000663.1:g.154544171_154544173del	GRCh37
NC_000001.9:g.152810795_152810797del	NCBI36
NG_008027.1:g.8915_8917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.872_874del MANE Select	ENSP00000357461.3:p.Ser291_Leu292delinsPhe
ENST00000636034.1:c.872_874del	ENSP00000489703.1:p.Ser291_Leu292delinsPhe
ENST00000637900.1:c.878_880del	ENSP00000490474.1:p.Ser293_Leu294delinsPhe
ENST00000368476.3:c.872_874del	ENSP00000357461.3:p.Ser291_Leu292delinsPhe
NM_000748.2:c.872_874del	NP_000739.1:p.Ser291_Leu292delinsPhe
XM_017000180.2:c.362_364del	XP_016855669.1:p.Ser121_Leu122delinsPhe
XR_001736952.2:n.1124_1126del
NM_000748.3:c.872_874del MANE Select	NP_000739.1:p.Ser291_Leu292delinsPhe