Canonical Allele Identifier: CA349347834

Gene: CHN1

Linked Data

• COSMIC: COSM350415
• MyVariant Identifiers: chr2:g.175689210A>T (hg19) ; chr2:g.174824482A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824482A>T , CM000664.2:g.174824482A>T	GRCh38
NC_000002.11:g.175689210A>T , CM000664.1:g.175689210A>T	GRCh37
NC_000002.10:g.175397456A>T	NCBI36
NG_012642.1:g.185961T>A
NG_012642.2:g.185961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.289T>A	ENSP00000295497.7:p.Cys97Ser
ENST00000444394.7:c.289T>A	ENSP00000411911.2:p.Cys97Ser
ENST00000295497.12:c.289T>A	ENSP00000295497.7:p.Cys97Ser
ENST00000409089.7:c.-12T>A	ENSP00000386322.3:n.-12T>A
ENST00000409900.9:c.664T>A MANE Select	ENSP00000386741.4:p.Cys222Ser
ENST00000413882.6:c.118T>A	ENSP00000410496.2:p.Cys40Ser
ENST00000425395.6:c.*111T>A	ENSP00000405270.2:n.*111T>A
ENST00000443238.6:c.142T>A	ENSP00000409798.2:p.Cys48Ser
ENST00000444394.6:c.289T>A	ENSP00000411911.2:p.Cys97Ser
ENST00000444573.2:c.508T>A	ENSP00000392603.2:p.Cys170Ser
ENST00000488080.6:n.307T>A
ENST00000650731.1:c.-12T>A	ENSP00000499146.1:n.-12T>A
ENST00000650938.1:c.188T>A
ENST00000651246.1:c.256T>A	ENSP00000498484.1:p.Cys86Ser
ENST00000651373.1:c.178T>A	ENSP00000499174.1:p.Cys60Ser
ENST00000651501.1:c.*111T>A	ENSP00000498894.1:n.*111T>A
ENST00000651717.1:c.253-12000T>A	ENSP00000499124.1:n.253-12000T>A
ENST00000652036.1:c.289T>A	ENSP00000499139.1:p.Cys97Ser
ENST00000652154.1:n.562T>A
ENST00000295497.11:c.289T>A	ENSP00000295497.7:p.Cys97Ser
ENST00000409089.6:c.-12T>A	ENSP00000386322.2:n.-12T>A
ENST00000409156.7:c.586T>A	ENSP00000386470.3:p.Cys196Ser
ENST00000409597.5:c.112T>A	ENSP00000386469.1:p.Cys38Ser
ENST00000409900.7:c.664T>A	ENSP00000386741.3:p.Cys222Ser
ENST00000413882.5:c.118T>A	ENSP00000410496.1:p.Cys40Ser
ENST00000425395.5:c.*215T>A	ENSP00000405270.1:n.*215T>A
ENST00000443238.5:c.142T>A	ENSP00000409798.1:p.Cys48Ser
ENST00000444394.5:c.-12T>A	ENSP00000411911.1:n.-12T>A
ENST00000444573.1:c.289T>A	ENSP00000392603.1:p.Cys97Ser
ENST00000485882.1:n.123T>A
ENST00000488080.5:n.515T>A
NM_001025201.3:c.586T>A	NP_001020372.2:p.Cys196Ser
NM_001206602.1:c.289T>A	NP_001193531.1:p.Cys97Ser
NM_001822.5:c.664T>A	NP_001813.1:p.Cys222Ser
NR_038133.1:n.530T>A
NM_001025201.4:c.586T>A	NP_001020372.2:p.Cys196Ser
NM_001206602.2:c.289T>A	NP_001193531.1:p.Cys97Ser
NM_001371513.1:c.664T>A	NP_001358442.1:p.Cys222Ser
NM_001371514.1:c.715T>A	NP_001358443.1:p.Cys239Ser
NM_001822.7:c.664T>A MANE Select	NP_001813.1:p.Cys222Ser
NR_038133.2:n.532T>A