Canonical Allele Identifier: CA342629896

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571202-T-C
• MyVariant Identifiers: chr1:g.154543678T>C (hg19) ; chr1:g.154571202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571202T>C , CM000663.2:g.154571202T>C	GRCh38
NC_000001.10:g.154543678T>C , CM000663.1:g.154543678T>C	GRCh37
NC_000001.9:g.152810302T>C	NCBI36
NG_008027.1:g.8422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.379T>C MANE Select	ENSP00000357461.3:p.Tyr127His
ENST00000636034.1:c.379T>C	ENSP00000489703.1:p.Tyr127His
ENST00000637900.1:c.385T>C	ENSP00000490474.1:p.Tyr129His
ENST00000368476.3:c.379T>C	ENSP00000357461.3:p.Tyr127His
NM_000748.2:c.379T>C	NP_000739.1:p.Tyr127His
XM_017000180.2:c.-9-123T>C	XP_016855669.1:n.-9-123T>C
XR_001736952.2:n.631T>C
NM_000748.3:c.379T>C MANE Select	NP_000739.1:p.Tyr127His