Canonical Allele Identifier: CA342631026

Gene: CHRNB2

Linked Data

• MyVariant Identifiers: chr1:g.154544179G>T (hg19) ; chr1:g.154571703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571703G>T , CM000663.2:g.154571703G>T	GRCh38
NC_000001.10:g.154544179G>T , CM000663.1:g.154544179G>T	GRCh37
NC_000001.9:g.152810803G>T	NCBI36
NG_008027.1:g.8923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.880G>T MANE Select	ENSP00000357461.3:p.Val294Leu
ENST00000636034.1:c.880G>T	ENSP00000489703.1:p.Val294Leu
ENST00000637900.1:c.886G>T	ENSP00000490474.1:p.Val296Leu
ENST00000368476.3:c.880G>T	ENSP00000357461.3:p.Val294Leu
NM_000748.2:c.880G>T	NP_000739.1:p.Val294Leu
XM_017000180.2:c.370G>T	XP_016855669.1:p.Val124Leu
XR_001736952.2:n.1132G>T
NM_000748.3:c.880G>T MANE Select	NP_000739.1:p.Val294Leu