Canonical Allele Identifier: CA351006813

Gene: CHRNG

Linked Data

• MyVariant Identifiers: chr2:g.233404513G>C (hg19) ; chr2:g.232539803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232539803G>C , CM000664.2:g.232539803G>C	GRCh38
NC_000002.11:g.233404513G>C , CM000664.1:g.233404513G>C	GRCh37
NC_000002.10:g.233112757G>C	NCBI36
NG_012954.1:g.5077G>C
NG_012954.2:g.5112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651502.1:c.55+1G>C MANE Select	ENSP00000498757.1:n.55+1G>C
ENST00000389492.3:c.55+1G>C	ENSP00000374143.3:n.55+1G>C
ENST00000389494.7:c.55+1G>C	ENSP00000374145.3:n.55+1G>C
ENST00000485094.1:n.76+1G>C
NM_005199.4:c.55+1G>C	NP_005190.4:n.55+1G>C
NM_005199.5:c.55+1G>C MANE Select	NP_005190.4:n.55+1G>C