Canonical Allele Identifier: CA349347873

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689219A>T (hg19) ; chr2:g.174824491A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824491A>T , CM000664.2:g.174824491A>T	GRCh38
NC_000002.11:g.175689219A>T , CM000664.1:g.175689219A>T	GRCh37
NC_000002.10:g.175397465A>T	NCBI36
NG_012642.1:g.185952T>A
NG_012642.2:g.185952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.280T>A	ENSP00000295497.7:p.Cys94Ser
ENST00000444394.7:c.280T>A	ENSP00000411911.2:p.Cys94Ser
ENST00000295497.12:c.280T>A	ENSP00000295497.7:p.Cys94Ser
ENST00000409089.7:c.-21T>A	ENSP00000386322.3:n.-21T>A
ENST00000409900.9:c.655T>A MANE Select	ENSP00000386741.4:p.Cys219Ser
ENST00000413882.6:c.109T>A	ENSP00000410496.2:p.Cys37Ser
ENST00000425395.6:c.*102T>A	ENSP00000405270.2:n.*102T>A
ENST00000443238.6:c.133T>A	ENSP00000409798.2:p.Cys45Ser
ENST00000444394.6:c.280T>A	ENSP00000411911.2:p.Cys94Ser
ENST00000444573.2:c.499T>A	ENSP00000392603.2:p.Cys167Ser
ENST00000488080.6:n.298T>A
ENST00000650731.1:c.-21T>A	ENSP00000499146.1:n.-21T>A
ENST00000650770.1:c.*569T>A	ENSP00000499036.1:n.*569T>A
ENST00000650938.1:c.179T>A
ENST00000651246.1:c.247T>A	ENSP00000498484.1:p.Cys83Ser
ENST00000651373.1:c.169T>A	ENSP00000499174.1:p.Cys57Ser
ENST00000651501.1:c.*102T>A	ENSP00000498894.1:n.*102T>A
ENST00000651717.1:c.253-12009T>A	ENSP00000499124.1:n.253-12009T>A
ENST00000652036.1:c.280T>A	ENSP00000499139.1:p.Cys94Ser
ENST00000652154.1:n.553T>A
ENST00000652734.1:n.552T>A
ENST00000652768.1:n.547T>A
ENST00000295497.11:c.280T>A	ENSP00000295497.7:p.Cys94Ser
ENST00000409089.6:c.-21T>A	ENSP00000386322.2:n.-21T>A
ENST00000409156.7:c.577T>A	ENSP00000386470.3:p.Cys193Ser
ENST00000409597.5:c.103T>A	ENSP00000386469.1:p.Cys35Ser
ENST00000409900.7:c.655T>A	ENSP00000386741.3:p.Cys219Ser
ENST00000413882.5:c.109T>A	ENSP00000410496.1:p.Cys37Ser
ENST00000425395.5:c.*206T>A	ENSP00000405270.1:n.*206T>A
ENST00000443238.5:c.133T>A	ENSP00000409798.1:p.Cys45Ser
ENST00000444394.5:c.-21T>A	ENSP00000411911.1:n.-21T>A
ENST00000444573.1:c.280T>A	ENSP00000392603.1:p.Cys94Ser
ENST00000485882.1:n.114T>A
ENST00000488080.5:n.506T>A
NM_001025201.3:c.577T>A	NP_001020372.2:p.Cys193Ser
NM_001206602.1:c.280T>A	NP_001193531.1:p.Cys94Ser
NM_001822.5:c.655T>A	NP_001813.1:p.Cys219Ser
NR_038133.1:n.521T>A
NM_001025201.4:c.577T>A	NP_001020372.2:p.Cys193Ser
NM_001206602.2:c.280T>A	NP_001193531.1:p.Cys94Ser
NM_001371513.1:c.655T>A	NP_001358442.1:p.Cys219Ser
NM_001371514.1:c.706T>A	NP_001358443.1:p.Cys236Ser
NM_001822.7:c.655T>A MANE Select	NP_001813.1:p.Cys219Ser
NR_038133.2:n.523T>A