Canonical Allele Identifier: CA342629916

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571211-T-G
• MyVariant Identifiers: chr1:g.154543687T>G (hg19) ; chr1:g.154571211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571211T>G , CM000663.2:g.154571211T>G	GRCh38
NC_000001.10:g.154543687T>G , CM000663.1:g.154543687T>G	GRCh37
NC_000001.9:g.152810311T>G	NCBI36
NG_008027.1:g.8431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.388T>G MANE Select	ENSP00000357461.3:p.Ser130Ala
ENST00000636034.1:c.388T>G	ENSP00000489703.1:p.Ser130Ala
ENST00000637900.1:c.394T>G	ENSP00000490474.1:p.Ser132Ala
ENST00000368476.3:c.388T>G	ENSP00000357461.3:p.Ser130Ala
NM_000748.2:c.388T>G	NP_000739.1:p.Ser130Ala
XM_017000180.2:c.-9-114T>G	XP_016855669.1:n.-9-114T>G
XR_001736952.2:n.640T>G
NM_000748.3:c.388T>G MANE Select	NP_000739.1:p.Ser130Ala