Canonical Allele Identifier: CA349342398

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664959A>T (hg19) ; chr2:g.174800231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800231A>T , CM000664.2:g.174800231A>T	GRCh38
NC_000002.11:g.175664959A>T , CM000664.1:g.175664959A>T	GRCh37
NC_000002.10:g.175373205A>T	NCBI36
NG_012642.1:g.210212T>A
NG_012642.2:g.210212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.890T>A	ENSP00000295497.7:p.Phe297Tyr
ENST00000295497.12:c.890T>A	ENSP00000295497.7:p.Phe297Tyr
ENST00000409900.9:c.1265T>A MANE Select	ENSP00000386741.4:p.Phe422Tyr
ENST00000413882.6:c.719T>A	ENSP00000410496.2:p.Phe240Tyr
ENST00000443238.6:c.743T>A	ENSP00000409798.2:p.Phe248Tyr
ENST00000488080.6:n.908T>A
ENST00000650731.1:c.590T>A	ENSP00000499146.1:p.Phe197Tyr
ENST00000650938.1:c.651T>A
ENST00000651246.1:c.857T>A	ENSP00000498484.1:p.Phe286Tyr
ENST00000651501.1:c.*712T>A	ENSP00000498894.1:n.*712T>A
ENST00000651717.1:c.*541T>A	ENSP00000499124.1:n.*541T>A
ENST00000652036.1:c.941T>A	ENSP00000499139.1:p.Phe314Tyr
ENST00000295497.11:c.890T>A	ENSP00000295497.7:p.Phe297Tyr
ENST00000409156.7:c.1187T>A	ENSP00000386470.3:p.Phe396Tyr
ENST00000409597.5:c.713T>A	ENSP00000386469.1:p.Phe238Tyr
ENST00000409900.7:c.1265T>A	ENSP00000386741.3:p.Phe422Tyr
ENST00000488080.5:n.1116T>A
ENST00000492964.1:n.408T>A
NM_001025201.3:c.1187T>A	NP_001020372.2:p.Phe396Tyr
NM_001206602.1:c.890T>A	NP_001193531.1:p.Phe297Tyr
NM_001822.5:c.1265T>A	NP_001813.1:p.Phe422Tyr
NR_038133.1:n.1131T>A
NM_001025201.4:c.1187T>A	NP_001020372.2:p.Phe396Tyr
NM_001206602.2:c.890T>A	NP_001193531.1:p.Phe297Tyr
NM_001371513.1:c.1265T>A	NP_001358442.1:p.Phe422Tyr
NM_001371514.1:c.1316T>A	NP_001358443.1:p.Phe439Tyr
NM_001822.7:c.1265T>A MANE Select	NP_001813.1:p.Phe422Tyr
NR_038133.2:n.1133T>A