Canonical Allele Identifier: CA349347661

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689165C>A (hg19) ; chr2:g.174824437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824437C>A , CM000664.2:g.174824437C>A	GRCh38
NC_000002.11:g.175689165C>A , CM000664.1:g.175689165C>A	GRCh37
NC_000002.10:g.175397411C>A	NCBI36
NG_012642.1:g.186006G>T
NG_012642.2:g.186006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.334G>T	ENSP00000295497.7:p.Ala112Ser
ENST00000444394.7:c.334G>T	ENSP00000411911.2:p.Ala112Ser
ENST00000295497.12:c.334G>T	ENSP00000295497.7:p.Ala112Ser
ENST00000409089.7:c.34G>T	ENSP00000386322.3:p.Ala12Ser
ENST00000409900.9:c.709G>T MANE Select	ENSP00000386741.4:p.Ala237Ser
ENST00000413882.6:c.163G>T	ENSP00000410496.2:p.Ala55Ser
ENST00000425395.6:c.*156G>T	ENSP00000405270.2:n.*156G>T
ENST00000443238.6:c.187G>T	ENSP00000409798.2:p.Ala63Ser
ENST00000444394.6:c.334G>T	ENSP00000411911.2:p.Ala112Ser
ENST00000444573.2:c.553G>T	ENSP00000392603.2:p.Ala185Ser
ENST00000488080.6:n.352G>T
ENST00000650731.1:c.34G>T	ENSP00000499146.1:p.Ala12Ser
ENST00000650938.1:c.233G>T
ENST00000651246.1:c.301G>T	ENSP00000498484.1:p.Ala101Ser
ENST00000651373.1:c.223G>T	ENSP00000499174.1:p.Ala75Ser
ENST00000651501.1:c.*156G>T	ENSP00000498894.1:n.*156G>T
ENST00000651717.1:c.253-11955G>T	ENSP00000499124.1:n.253-11955G>T
ENST00000652036.1:c.334G>T	ENSP00000499139.1:p.Ala112Ser
ENST00000652154.1:n.607G>T
ENST00000295497.11:c.334G>T	ENSP00000295497.7:p.Ala112Ser
ENST00000409089.6:c.34G>T	ENSP00000386322.2:p.Ala12Ser
ENST00000409156.7:c.631G>T	ENSP00000386470.3:p.Ala211Ser
ENST00000409597.5:c.157G>T	ENSP00000386469.1:p.Ala53Ser
ENST00000409900.7:c.709G>T	ENSP00000386741.3:p.Ala237Ser
ENST00000413882.5:c.163G>T	ENSP00000410496.1:p.Ala55Ser
ENST00000425395.5:c.*260G>T	ENSP00000405270.1:n.*260G>T
ENST00000443238.5:c.187G>T	ENSP00000409798.1:p.Ala63Ser
ENST00000444394.5:c.34G>T	ENSP00000411911.1:p.Ala12Ser
ENST00000444573.1:c.334G>T	ENSP00000392603.1:p.Ala112Ser
ENST00000485882.1:n.168G>T
ENST00000488080.5:n.560G>T
NM_001025201.3:c.631G>T	NP_001020372.2:p.Ala211Ser
NM_001206602.1:c.334G>T	NP_001193531.1:p.Ala112Ser
NM_001822.5:c.709G>T	NP_001813.1:p.Ala237Ser
NR_038133.1:n.575G>T
NM_001025201.4:c.631G>T	NP_001020372.2:p.Ala211Ser
NM_001206602.2:c.334G>T	NP_001193531.1:p.Ala112Ser
NM_001371513.1:c.709G>T	NP_001358442.1:p.Ala237Ser
NM_001371514.1:c.760G>T	NP_001358443.1:p.Ala254Ser
NM_001822.7:c.709G>T MANE Select	NP_001813.1:p.Ala237Ser
NR_038133.2:n.577G>T