Canonical Allele Identifier: CA349347865

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689217A>T (hg19) ; chr2:g.174824489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824489A>T , CM000664.2:g.174824489A>T	GRCh38
NC_000002.11:g.175689217A>T , CM000664.1:g.175689217A>T	GRCh37
NC_000002.10:g.175397463A>T	NCBI36
NG_012642.1:g.185954T>A
NG_012642.2:g.185954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.282T>A	ENSP00000295497.7:p.Cys94Ter
ENST00000444394.7:c.282T>A	ENSP00000411911.2:p.Cys94Ter
ENST00000295497.12:c.282T>A	ENSP00000295497.7:p.Cys94Ter
ENST00000409089.7:c.-19T>A	ENSP00000386322.3:n.-19T>A
ENST00000409900.9:c.657T>A MANE Select	ENSP00000386741.4:p.Cys219Ter
ENST00000413882.6:c.111T>A	ENSP00000410496.2:p.Cys37Ter
ENST00000425395.6:c.*104T>A	ENSP00000405270.2:n.*104T>A
ENST00000443238.6:c.135T>A	ENSP00000409798.2:p.Cys45Ter
ENST00000444394.6:c.282T>A	ENSP00000411911.2:p.Cys94Ter
ENST00000444573.2:c.501T>A	ENSP00000392603.2:p.Cys167Ter
ENST00000488080.6:n.300T>A
ENST00000650731.1:c.-19T>A	ENSP00000499146.1:n.-19T>A
ENST00000650938.1:c.181T>A
ENST00000651246.1:c.249T>A	ENSP00000498484.1:p.Cys83Ter
ENST00000651373.1:c.171T>A	ENSP00000499174.1:p.Cys57Ter
ENST00000651501.1:c.*104T>A	ENSP00000498894.1:n.*104T>A
ENST00000651717.1:c.253-12007T>A	ENSP00000499124.1:n.253-12007T>A
ENST00000652036.1:c.282T>A	ENSP00000499139.1:p.Cys94Ter
ENST00000652154.1:n.555T>A
ENST00000295497.11:c.282T>A	ENSP00000295497.7:p.Cys94Ter
ENST00000409089.6:c.-19T>A	ENSP00000386322.2:n.-19T>A
ENST00000409156.7:c.579T>A	ENSP00000386470.3:p.Cys193Ter
ENST00000409597.5:c.105T>A	ENSP00000386469.1:p.Cys35Ter
ENST00000409900.7:c.657T>A	ENSP00000386741.3:p.Cys219Ter
ENST00000413882.5:c.111T>A	ENSP00000410496.1:p.Cys37Ter
ENST00000425395.5:c.*208T>A	ENSP00000405270.1:n.*208T>A
ENST00000443238.5:c.135T>A	ENSP00000409798.1:p.Cys45Ter
ENST00000444394.5:c.-19T>A	ENSP00000411911.1:n.-19T>A
ENST00000444573.1:c.282T>A	ENSP00000392603.1:p.Cys94Ter
ENST00000485882.1:n.116T>A
ENST00000488080.5:n.508T>A
NM_001025201.3:c.579T>A	NP_001020372.2:p.Cys193Ter
NM_001206602.1:c.282T>A	NP_001193531.1:p.Cys94Ter
NM_001822.5:c.657T>A	NP_001813.1:p.Cys219Ter
NR_038133.1:n.523T>A
NM_001025201.4:c.579T>A	NP_001020372.2:p.Cys193Ter
NM_001206602.2:c.282T>A	NP_001193531.1:p.Cys94Ter
NM_001371513.1:c.657T>A	NP_001358442.1:p.Cys219Ter
NM_001371514.1:c.708T>A	NP_001358443.1:p.Cys236Ter
NM_001822.7:c.657T>A MANE Select	NP_001813.1:p.Cys219Ter
NR_038133.2:n.525T>A