Canonical Allele Identifier: CA343929
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707538
ClinVar RCV Id: RCV002286498 RCV003097704
dbSNP Id: rs74315291
MyVariant Identifiers: chr1:g.154544158G>T (hg19) chr1:g.154571682G>T (hg38)
PubMed: PMID:20301348
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571682G>T , CM000663.2:g.154571682G>T GRCh38
NC_000001.10:g.154544158G>T , CM000663.1:g.154544158G>T GRCh37
NC_000001.9:g.152810782G>T NCBI36
NG_008027.1:g.8902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.859G>T MANE Select ENSP00000357461.3:p.Val287Leu
ENST00000636034.1:c.859G>T ENSP00000489703.1:p.Val287Leu
ENST00000637900.1:c.865G>T ENSP00000490474.1:p.Val289Leu
ENST00000368476.3:c.859G>T ENSP00000357461.3:p.Val287Leu
NM_000748.2:c.859G>T NP_000739.1:p.Val287Leu
XM_017000180.2:c.349G>T XP_016855669.1:p.Val117Leu
XR_001736952.2:n.1111G>T
NM_000748.3:c.859G>T MANE Select NP_000739.1:p.Val287Leu
Search 100 bp 5'
Search 100 bp 3'