Canonical Allele Identifier: CA342631162
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571769G>C , CM000663.2:g.154571769G>C GRCh38
NC_000001.10:g.154544245G>C , CM000663.1:g.154544245G>C GRCh37
NC_000001.9:g.152810869G>C NCBI36
NG_008027.1:g.8989G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.946G>C MANE Select ENSP00000357461.3:p.Val316Leu
ENST00000636034.1:c.946G>C ENSP00000489703.1:p.Val316Leu
ENST00000637900.1:c.952G>C ENSP00000490474.1:p.Val318Leu
ENST00000368476.3:c.946G>C ENSP00000357461.3:p.Val316Leu
NM_000748.2:c.946G>C NP_000739.1:p.Val316Leu
XM_017000180.2:c.436G>C XP_016855669.1:p.Val146Leu
XR_001736952.2:n.1198G>C
NM_000748.3:c.946G>C MANE Select NP_000739.1:p.Val316Leu