Canonical Allele Identifier: CA349347822

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689209C>T (hg19) ; chr2:g.174824481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824481C>T , CM000664.2:g.174824481C>T	GRCh38
NC_000002.11:g.175689209C>T , CM000664.1:g.175689209C>T	GRCh37
NC_000002.10:g.175397455C>T	NCBI36
NG_012642.1:g.185962G>A
NG_012642.2:g.185962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.290G>A	ENSP00000295497.7:p.Cys97Tyr
ENST00000444394.7:c.290G>A	ENSP00000411911.2:p.Cys97Tyr
ENST00000295497.12:c.290G>A	ENSP00000295497.7:p.Cys97Tyr
ENST00000409089.7:c.-11G>A	ENSP00000386322.3:n.-11G>A
ENST00000409900.9:c.665G>A MANE Select	ENSP00000386741.4:p.Cys222Tyr
ENST00000413882.6:c.119G>A	ENSP00000410496.2:p.Cys40Tyr
ENST00000425395.6:c.*112G>A	ENSP00000405270.2:n.*112G>A
ENST00000443238.6:c.143G>A	ENSP00000409798.2:p.Cys48Tyr
ENST00000444394.6:c.290G>A	ENSP00000411911.2:p.Cys97Tyr
ENST00000444573.2:c.509G>A	ENSP00000392603.2:p.Cys170Tyr
ENST00000488080.6:n.308G>A
ENST00000650731.1:c.-11G>A	ENSP00000499146.1:n.-11G>A
ENST00000650938.1:c.189G>A
ENST00000651246.1:c.257G>A	ENSP00000498484.1:p.Cys86Tyr
ENST00000651373.1:c.179G>A	ENSP00000499174.1:p.Cys60Tyr
ENST00000651501.1:c.*112G>A	ENSP00000498894.1:n.*112G>A
ENST00000651717.1:c.253-11999G>A	ENSP00000499124.1:n.253-11999G>A
ENST00000652036.1:c.290G>A	ENSP00000499139.1:p.Cys97Tyr
ENST00000652154.1:n.563G>A
ENST00000295497.11:c.290G>A	ENSP00000295497.7:p.Cys97Tyr
ENST00000409089.6:c.-11G>A	ENSP00000386322.2:n.-11G>A
ENST00000409156.7:c.587G>A	ENSP00000386470.3:p.Cys196Tyr
ENST00000409597.5:c.113G>A	ENSP00000386469.1:p.Cys38Tyr
ENST00000409900.7:c.665G>A	ENSP00000386741.3:p.Cys222Tyr
ENST00000413882.5:c.119G>A	ENSP00000410496.1:p.Cys40Tyr
ENST00000425395.5:c.*216G>A	ENSP00000405270.1:n.*216G>A
ENST00000443238.5:c.143G>A	ENSP00000409798.1:p.Cys48Tyr
ENST00000444394.5:c.-11G>A	ENSP00000411911.1:n.-11G>A
ENST00000444573.1:c.290G>A	ENSP00000392603.1:p.Cys97Tyr
ENST00000485882.1:n.124G>A
ENST00000488080.5:n.516G>A
NM_001025201.3:c.587G>A	NP_001020372.2:p.Cys196Tyr
NM_001206602.1:c.290G>A	NP_001193531.1:p.Cys97Tyr
NM_001822.5:c.665G>A	NP_001813.1:p.Cys222Tyr
NR_038133.1:n.531G>A
NM_001025201.4:c.587G>A	NP_001020372.2:p.Cys196Tyr
NM_001206602.2:c.290G>A	NP_001193531.1:p.Cys97Tyr
NM_001371513.1:c.665G>A	NP_001358442.1:p.Cys222Tyr
NM_001371514.1:c.716G>A	NP_001358443.1:p.Cys239Tyr
NM_001822.7:c.665G>A MANE Select	NP_001813.1:p.Cys222Tyr
NR_038133.2:n.533G>A