Canonical Allele Identifier: CA889604012

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1295733114
• gnomAD v3: 1-154576194-GGCT-G
• gnomAD v4: 1-154576194-GGCT-G
• MyVariant Identifiers: chr1:g.154548671_154548673del (hg19) ; chr1:g.154576195_154576197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576198_154576200del , CM000663.2:g.154576198_154576200del	GRCh38
NC_000001.10:g.154548674_154548676del , CM000663.1:g.154548674_154548676del	GRCh37
NC_000001.9:g.152815298_152815300del	NCBI36
NG_008027.1:g.13418_13420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.*266_*268del MANE Select	ENSP00000357461.3:n.*266_*268del
ENST00000636034.1:c.1505+270_1505+272del	ENSP00000489703.1:n.1505+270_1505+272del
ENST00000637900.1:c.*266_*268del	ENSP00000490474.1:n.*266_*268del
ENST00000368476.3:c.*266_*268del	ENSP00000357461.3:n.*266_*268del
NM_000748.2:c.*266_*268del	NP_000739.1:n.*266_*268del
XM_017000180.2:c.*266_*268del	XP_016855669.1:n.*266_*268del
XR_001736952.2:n.2027_2029del
NM_000748.3:c.*266_*268del MANE Select	NP_000739.1:n.*266_*268del