Canonical Allele Identifier: CA342631196
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758489
ClinVar RCV Id: RCV003583887
dbSNP Id: rs771568668
gnomAD v3: 1-154571784-G-C
gnomAD v4: 1-154571784-G-C
MyVariant Identifiers: chr1:g.154544260G>C (hg19) chr1:g.154571784G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571784G>C , CM000663.2:g.154571784G>C GRCh38
NC_000001.10:g.154544260G>C , CM000663.1:g.154544260G>C GRCh37
NC_000001.9:g.152810884G>C NCBI36
NG_008027.1:g.9004G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.961G>C MANE Select ENSP00000357461.3:p.Val321Leu
ENST00000636034.1:c.961G>C ENSP00000489703.1:p.Val321Leu
ENST00000637900.1:c.967G>C ENSP00000490474.1:p.Val323Leu
ENST00000368476.3:c.961G>C ENSP00000357461.3:p.Val321Leu
NM_000748.2:c.961G>C NP_000739.1:p.Val321Leu
XM_017000180.2:c.451G>C XP_016855669.1:p.Val151Leu
XR_001736952.2:n.1213G>C
NM_000748.3:c.961G>C MANE Select NP_000739.1:p.Val321Leu
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