Canonical Allele Identifier: CA421231050

Gene: CHRNB2

Linked Data

• COSMIC: COSM5521239
• MyVariant Identifiers: chr1:g.154544256C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571780C>T , CM000663.2:g.154571780C>T	GRCh38
NC_000001.10:g.154544256C>T , CM000663.1:g.154544256C>T	GRCh37
NC_000001.9:g.152810880C>T	NCBI36
NG_008027.1:g.9000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.957C>T MANE Select	ENSP00000357461.3:p.Leu319=
ENST00000636034.1:c.957C>T	ENSP00000489703.1:p.Leu319=
ENST00000637900.1:c.963C>T	ENSP00000490474.1:p.Leu321=
ENST00000368476.3:c.957C>T	ENSP00000357461.3:p.Leu319=
NM_000748.2:c.957C>T	NP_000739.1:p.Leu319=
XM_017000180.2:c.447C>T	XP_016855669.1:p.Leu149=
XR_001736952.2:n.1209C>T
NM_000748.3:c.957C>T MANE Select	NP_000739.1:p.Leu319=