Canonical Allele Identifier: CA342630760
Gene: CHRNB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154544051T>A (hg19) chr1:g.154571575T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571575T>A , CM000663.2:g.154571575T>A GRCh38
NC_000001.10:g.154544051T>A , CM000663.1:g.154544051T>A GRCh37
NC_000001.9:g.152810675T>A NCBI36
NG_008027.1:g.8795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.752T>A MANE Select ENSP00000357461.3:p.Leu251Gln
ENST00000636034.1:c.752T>A ENSP00000489703.1:p.Leu251Gln
ENST00000637900.1:c.758T>A ENSP00000490474.1:p.Leu253Gln
ENST00000368476.3:c.752T>A ENSP00000357461.3:p.Leu251Gln
NM_000748.2:c.752T>A NP_000739.1:p.Leu251Gln
XM_017000180.2:c.242T>A XP_016855669.1:p.Leu81Gln
XR_001736952.2:n.1004T>A
NM_000748.3:c.752T>A MANE Select NP_000739.1:p.Leu251Gln
Search 100 bp 5'
Search 100 bp 3'