Canonical Allele Identifier: CA658653738
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 444179
ClinVar RCV Id: RCV000513543
dbSNP Id: rs1553203865
gnomAD v4: 1-154568114-G-C
MyVariant Identifiers: chr1:g.154540590G>C (hg19) chr1:g.154568114G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154568114G>C , CM000663.2:g.154568114G>C GRCh38
NC_000001.10:g.154540590G>C , CM000663.1:g.154540590G>C GRCh37
NC_000001.9:g.152807214G>C NCBI36
NG_008027.1:g.5334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.64+6G>C MANE Select ENSP00000357461.3:n.64+6G>C
ENST00000636034.1:c.64+6G>C ENSP00000489703.1:n.64+6G>C
ENST00000637900.1:c.64+6G>C ENSP00000490474.1:n.64+6G>C
ENST00000368476.3:c.64+6G>C ENSP00000357461.3:n.64+6G>C
NM_000748.2:c.64+6G>C NP_000739.1:n.64+6G>C
XM_017000180.2:c.-311+6G>C XP_016855669.1:n.-311+6G>C
XR_001736952.2:n.316+6G>C
NM_000748.3:c.64+6G>C MANE Select NP_000739.1:n.64+6G>C
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