Canonical Allele Identifier: CA349347790

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689200A>T (hg19) ; chr2:g.174824472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824472A>T , CM000664.2:g.174824472A>T	GRCh38
NC_000002.11:g.175689200A>T , CM000664.1:g.175689200A>T	GRCh37
NC_000002.10:g.175397446A>T	NCBI36
NG_012642.1:g.185971T>A
NG_012642.2:g.185971T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.299T>A	ENSP00000295497.7:p.Phe100Tyr
ENST00000444394.7:c.299T>A	ENSP00000411911.2:p.Phe100Tyr
ENST00000295497.12:c.299T>A	ENSP00000295497.7:p.Phe100Tyr
ENST00000409089.7:c.-2T>A	ENSP00000386322.3:n.-2T>A
ENST00000409900.9:c.674T>A MANE Select	ENSP00000386741.4:p.Phe225Tyr
ENST00000413882.6:c.128T>A	ENSP00000410496.2:p.Phe43Tyr
ENST00000425395.6:c.*121T>A	ENSP00000405270.2:n.*121T>A
ENST00000443238.6:c.152T>A	ENSP00000409798.2:p.Phe51Tyr
ENST00000444394.6:c.299T>A	ENSP00000411911.2:p.Phe100Tyr
ENST00000444573.2:c.518T>A	ENSP00000392603.2:p.Phe173Tyr
ENST00000488080.6:n.317T>A
ENST00000650731.1:c.-2T>A	ENSP00000499146.1:n.-2T>A
ENST00000650938.1:c.198T>A
ENST00000651246.1:c.266T>A	ENSP00000498484.1:p.Phe89Tyr
ENST00000651373.1:c.188T>A	ENSP00000499174.1:p.Phe63Tyr
ENST00000651501.1:c.*121T>A	ENSP00000498894.1:n.*121T>A
ENST00000651717.1:c.253-11990T>A	ENSP00000499124.1:n.253-11990T>A
ENST00000652036.1:c.299T>A	ENSP00000499139.1:p.Phe100Tyr
ENST00000652154.1:n.572T>A
ENST00000295497.11:c.299T>A	ENSP00000295497.7:p.Phe100Tyr
ENST00000409089.6:c.-2T>A	ENSP00000386322.2:n.-2T>A
ENST00000409156.7:c.596T>A	ENSP00000386470.3:p.Phe199Tyr
ENST00000409597.5:c.122T>A	ENSP00000386469.1:p.Phe41Tyr
ENST00000409900.7:c.674T>A	ENSP00000386741.3:p.Phe225Tyr
ENST00000413882.5:c.128T>A	ENSP00000410496.1:p.Phe43Tyr
ENST00000425395.5:c.*225T>A	ENSP00000405270.1:n.*225T>A
ENST00000443238.5:c.152T>A	ENSP00000409798.1:p.Phe51Tyr
ENST00000444394.5:c.-2T>A	ENSP00000411911.1:n.-2T>A
ENST00000444573.1:c.299T>A	ENSP00000392603.1:p.Phe100Tyr
ENST00000485882.1:n.133T>A
ENST00000488080.5:n.525T>A
NM_001025201.3:c.596T>A	NP_001020372.2:p.Phe199Tyr
NM_001206602.1:c.299T>A	NP_001193531.1:p.Phe100Tyr
NM_001822.5:c.674T>A	NP_001813.1:p.Phe225Tyr
NR_038133.1:n.540T>A
NM_001025201.4:c.596T>A	NP_001020372.2:p.Phe199Tyr
NM_001206602.2:c.299T>A	NP_001193531.1:p.Phe100Tyr
NM_001371513.1:c.674T>A	NP_001358442.1:p.Phe225Tyr
NM_001371514.1:c.725T>A	NP_001358443.1:p.Phe242Tyr
NM_001822.7:c.674T>A MANE Select	NP_001813.1:p.Phe225Tyr
NR_038133.2:n.542T>A