Canonical Allele Identifier: CA526666206

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1465452953
• gnomAD v2: 1-154544183-C-CTATTA
• gnomAD v4: 1-154571707-C-CTATTA
• MyVariant Identifiers: chr1:g.154544183_154544184insTATTA (hg19) ; chr1:g.154571707_154571708insTATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571707_154571708insTATTA , CM000663.2:g.154571707_154571708insTATTA	GRCh38
NC_000001.10:g.154544183_154544184insTATTA , CM000663.1:g.154544183_154544184insTATTA	GRCh37
NC_000001.9:g.152810807_152810808insTATTA	NCBI36
NG_008027.1:g.8927_8928insTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.884_885insTATTA MANE Select	ENSP00000357461.3:p.Leu296IlefsTer?
ENST00000636034.1:c.884_885insTATTA	ENSP00000489703.1:p.Leu296IlefsTer?
ENST00000637900.1:c.890_891insTATTA	ENSP00000490474.1:p.Leu298IlefsTer?
ENST00000368476.3:c.884_885insTATTA	ENSP00000357461.3:p.Leu296IlefsTer?
NM_000748.2:c.884_885insTATTA	NP_000739.1:p.Leu296IlefsTer?
XM_017000180.2:c.374_375insTATTA	XP_016855669.1:p.Leu126IlefsTer?
XR_001736952.2:n.1136_1137insTATTA
NM_000748.3:c.884_885insTATTA MANE Select	NP_000739.1:p.Leu296IlefsTer?