Canonical Allele Identifier: CA526408573

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1281042156
• gnomAD v2: 1-154548711-TGAG-T
• gnomAD v4: 1-154576235-TGAG-T
• MyVariant Identifiers: chr1:g.154548712_154548714del (hg19) ; chr1:g.154576236_154576238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576239_154576241del , CM000663.2:g.154576239_154576241del	GRCh38
NC_000001.10:g.154548715_154548717del , CM000663.1:g.154548715_154548717del	GRCh37
NC_000001.9:g.152815339_152815341del	NCBI36
NG_008027.1:g.13459_13461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.*307_*309del MANE Select	ENSP00000357461.3:n.*307_*309del
ENST00000636034.1:c.1505+311_1505+313del	ENSP00000489703.1:n.1505+311_1505+313del
ENST00000637900.1:c.*307_*309del	ENSP00000490474.1:n.*307_*309del
ENST00000368476.3:c.*307_*309del	ENSP00000357461.3:n.*307_*309del
NM_000748.2:c.*307_*309del	NP_000739.1:n.*307_*309del
XM_017000180.2:c.*307_*309del	XP_016855669.1:n.*307_*309del
XR_001736952.2:n.2068_2070del
NM_000748.3:c.*307_*309del MANE Select	NP_000739.1:n.*307_*309del