Canonical Allele Identifier: CA342629875

Gene: CHRNB2

Linked Data

• MyVariant Identifiers: chr1:g.154543669G>T (hg19) ; chr1:g.154571193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571193G>T , CM000663.2:g.154571193G>T	GRCh38
NC_000001.10:g.154543669G>T , CM000663.1:g.154543669G>T	GRCh37
NC_000001.9:g.152810293G>T	NCBI36
NG_008027.1:g.8413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.370G>T MANE Select	ENSP00000357461.3:p.Asp124Tyr
ENST00000636034.1:c.370G>T	ENSP00000489703.1:p.Asp124Tyr
ENST00000637900.1:c.376G>T	ENSP00000490474.1:p.Asp126Tyr
ENST00000368476.3:c.370G>T	ENSP00000357461.3:p.Asp124Tyr
NM_000748.2:c.370G>T	NP_000739.1:p.Asp124Tyr
XM_017000180.2:c.-9-132G>T	XP_016855669.1:n.-9-132G>T
XR_001736952.2:n.622G>T
NM_000748.3:c.370G>T MANE Select	NP_000739.1:p.Asp124Tyr