Canonical Allele Identifier: CA342630739
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571565A>G , CM000663.2:g.154571565A>G GRCh38
NC_000001.10:g.154544041A>G , CM000663.1:g.154544041A>G GRCh37
NC_000001.9:g.152810665A>G NCBI36
NG_008027.1:g.8785A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.742A>G MANE Select ENSP00000357461.3:p.Ile248Val
ENST00000636034.1:c.742A>G ENSP00000489703.1:p.Ile248Val
ENST00000637900.1:c.748A>G ENSP00000490474.1:p.Ile250Val
ENST00000368476.3:c.742A>G ENSP00000357461.3:p.Ile248Val
NM_000748.2:c.742A>G NP_000739.1:p.Ile248Val
XM_017000180.2:c.232A>G XP_016855669.1:p.Ile78Val
XR_001736952.2:n.994A>G
NM_000748.3:c.742A>G MANE Select NP_000739.1:p.Ile248Val