Canonical Allele Identifier: CA351011793

Gene: CHRNG

Linked Data

• MyVariant Identifiers: chr2:g.233407673A>T (hg19) ; chr2:g.232542963A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232542963A>T , CM000664.2:g.232542963A>T	GRCh38
NC_000002.11:g.233407673A>T , CM000664.1:g.233407673A>T	GRCh37
NC_000002.10:g.233115917A>T	NCBI36
NG_012954.1:g.8237A>T
NG_012954.2:g.8272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.686A>T MANE Select	ENSP00000498757.1:p.Gln229Leu
ENST00000389492.3:c.530A>T	ENSP00000374143.3:p.Gln177Leu
ENST00000389494.7:c.686A>T	ENSP00000374145.3:p.Gln229Leu
NM_005199.4:c.686A>T	NP_005190.4:p.Gln229Leu
NM_005199.5:c.686A>T MANE Select	NP_005190.4:p.Gln229Leu