Canonical Allele Identifier: CA342630756

Gene: CHRNB2

Linked Data

• dbSNP Id: rs2101521039
• gnomAD v3: 1-154571572-C-T
• gnomAD v4: 1-154571572-C-T
• MyVariant Identifiers: chr1:g.154544048C>T (hg19) ; chr1:g.154571572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571572C>T , CM000663.2:g.154571572C>T	GRCh38
NC_000001.10:g.154544048C>T , CM000663.1:g.154544048C>T	GRCh37
NC_000001.9:g.152810672C>T	NCBI36
NG_008027.1:g.8792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.749C>T MANE Select	ENSP00000357461.3:p.Ser250Leu
ENST00000636034.1:c.749C>T	ENSP00000489703.1:p.Ser250Leu
ENST00000637900.1:c.755C>T	ENSP00000490474.1:p.Ser252Leu
ENST00000368476.3:c.749C>T	ENSP00000357461.3:p.Ser250Leu
NM_000748.2:c.749C>T	NP_000739.1:p.Ser250Leu
XM_017000180.2:c.239C>T	XP_016855669.1:p.Ser80Leu
XR_001736952.2:n.1001C>T
NM_000748.3:c.749C>T MANE Select	NP_000739.1:p.Ser250Leu