Canonical Allele Identifier: CA526407534

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1320304728
• gnomAD v2: 1-154543688-CCTT-C
• gnomAD v4: 1-154571212-CCTT-C
• MyVariant Identifiers: chr1:g.154543689_154543691del (hg19) ; chr1:g.154571213_154571215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571215_154571217del , CM000663.2:g.154571215_154571217del	GRCh38
NC_000001.10:g.154543691_154543693del , CM000663.1:g.154543691_154543693del	GRCh37
NC_000001.9:g.152810315_152810317del	NCBI36
NG_008027.1:g.8435_8437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.392_394del MANE Select	ENSP00000357461.3:p.Phe131del
ENST00000636034.1:c.392_394del	ENSP00000489703.1:p.Phe131del
ENST00000637900.1:c.398_400del	ENSP00000490474.1:p.Phe133del
ENST00000368476.3:c.392_394del	ENSP00000357461.3:p.Phe131del
NM_000748.2:c.392_394del	NP_000739.1:p.Phe131del
XM_017000180.2:c.-9-110_-9-108del	XP_016855669.1:n.-9-110_-9-108del
XR_001736952.2:n.644_646del
NM_000748.3:c.392_394del MANE Select	NP_000739.1:p.Phe131del