Canonical Allele Identifier: CA342630307
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043856
ClinVar RCV Id: RCV001348019
dbSNP Id: rs1696161618
MyVariant Identifiers: chr1:g.154543853T>C (hg19) chr1:g.154571377T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571377T>C , CM000663.2:g.154571377T>C GRCh38
NC_000001.10:g.154543853T>C , CM000663.1:g.154543853T>C GRCh37
NC_000001.9:g.152810477T>C NCBI36
NG_008027.1:g.8597T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.554T>C MANE Select ENSP00000357461.3:p.Leu185Ser
ENST00000636034.1:c.554T>C ENSP00000489703.1:p.Leu185Ser
ENST00000637900.1:c.560T>C ENSP00000490474.1:p.Leu187Ser
ENST00000368476.3:c.554T>C ENSP00000357461.3:p.Leu185Ser
NM_000748.2:c.554T>C NP_000739.1:p.Leu185Ser
XM_017000180.2:c.44T>C XP_016855669.1:p.Leu15Ser
XR_001736952.2:n.806T>C
NM_000748.3:c.554T>C MANE Select NP_000739.1:p.Leu185Ser
Search 100 bp 5'
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