Canonical Allele Identifier: CA1007917984

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1696276926
• gnomAD v3: 1-154576273-TTGTC-T
• gnomAD v4: 1-154576273-TTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576276_154576279del , CM000663.2:g.154576276_154576279del	GRCh38
NC_000001.10:g.154548752_154548755del , CM000663.1:g.154548752_154548755del	GRCh37
NC_000001.9:g.152815376_152815379del	NCBI36
NG_008027.1:g.13496_13499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.*344_*347del MANE Select	ENSP00000357461.3:n.*344_*347del
ENST00000636034.1:c.1505+348_1505+351del	ENSP00000489703.1:n.1505+348_1505+351del
ENST00000637900.1:c.*344_*347del	ENSP00000490474.1:n.*344_*347del
ENST00000368476.3:c.*344_*347del	ENSP00000357461.3:n.*344_*347del
NM_000748.2:c.*344_*347del	NP_000739.1:n.*344_*347del
XM_017000180.2:c.*344_*347del	XP_016855669.1:n.*344_*347del
XR_001736952.2:n.2105_2108del
NM_000748.3:c.*344_*347del MANE Select	NP_000739.1:n.*344_*347del