Canonical Allele Identifier: CA349347928

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689232T>G (hg19) ; chr2:g.174824504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824504T>G , CM000664.2:g.174824504T>G	GRCh38
NC_000002.11:g.175689232T>G , CM000664.1:g.175689232T>G	GRCh37
NC_000002.10:g.175397478T>G	NCBI36
NG_012642.1:g.185939A>C
NG_012642.2:g.185939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.267A>C	ENSP00000295497.7:p.Arg89Ser
ENST00000444394.7:c.267A>C	ENSP00000411911.2:p.Arg89Ser
ENST00000295497.12:c.267A>C	ENSP00000295497.7:p.Arg89Ser
ENST00000409089.7:c.-34A>C	ENSP00000386322.3:n.-34A>C
ENST00000409900.9:c.642A>C MANE Select	ENSP00000386741.4:p.Arg214Ser
ENST00000413882.6:c.96A>C	ENSP00000410496.2:p.Arg32Ser
ENST00000425395.6:c.*89A>C	ENSP00000405270.2:n.*89A>C
ENST00000443238.6:c.120A>C	ENSP00000409798.2:p.Arg40Ser
ENST00000444394.6:c.267A>C	ENSP00000411911.2:p.Arg89Ser
ENST00000444573.2:c.486A>C	ENSP00000392603.2:p.Arg162Ser
ENST00000451799.2:c.486A>C	ENSP00000416316.2:p.Arg162Ser
ENST00000469597.2:c.*290A>C	ENSP00000498417.1:n.*290A>C
ENST00000488080.6:n.285A>C
ENST00000650731.1:c.-34A>C	ENSP00000499146.1:n.-34A>C
ENST00000650734.1:c.*542A>C	ENSP00000498742.1:n.*542A>C
ENST00000650770.1:c.*556A>C	ENSP00000499036.1:n.*556A>C
ENST00000650938.1:c.166A>C
ENST00000651246.1:c.234A>C	ENSP00000498484.1:p.Arg78Ser
ENST00000651315.1:c.234A>C	ENSP00000498692.1:p.Arg78Ser
ENST00000651373.1:c.156A>C	ENSP00000499174.1:p.Arg52Ser
ENST00000651501.1:c.*89A>C	ENSP00000498894.1:n.*89A>C
ENST00000651580.1:c.*221A>C	ENSP00000498631.1:n.*221A>C
ENST00000651599.1:c.*126A>C	ENSP00000498535.1:n.*126A>C
ENST00000651717.1:c.253-12022A>C	ENSP00000499124.1:n.253-12022A>C
ENST00000651803.1:c.*634A>C	ENSP00000499007.1:n.*634A>C
ENST00000651971.1:c.*442A>C	ENSP00000499035.1:n.*442A>C
ENST00000652036.1:c.267A>C	ENSP00000499139.1:p.Arg89Ser
ENST00000652154.1:n.540A>C
ENST00000652208.1:c.486A>C	ENSP00000498475.1:p.Arg162Ser
ENST00000652434.1:c.603A>C	ENSP00000498549.1:p.Arg201Ser
ENST00000652437.1:n.785A>C
ENST00000652674.1:c.*126A>C	ENSP00000498599.1:n.*126A>C
ENST00000652734.1:n.539A>C
ENST00000652756.1:c.486A>C	ENSP00000498281.1:p.Arg162Ser
ENST00000652768.1:n.534A>C
ENST00000295497.11:c.267A>C	ENSP00000295497.7:p.Arg89Ser
ENST00000409089.6:c.-34A>C	ENSP00000386322.2:n.-34A>C
ENST00000409156.7:c.564A>C	ENSP00000386470.3:p.Arg188Ser
ENST00000409597.5:c.90A>C	ENSP00000386469.1:p.Arg30Ser
ENST00000409900.7:c.642A>C	ENSP00000386741.3:p.Arg214Ser
ENST00000413882.5:c.96A>C	ENSP00000410496.1:p.Arg32Ser
ENST00000425395.5:c.*193A>C	ENSP00000405270.1:n.*193A>C
ENST00000443238.5:c.120A>C	ENSP00000409798.1:p.Arg40Ser
ENST00000444394.5:c.-34A>C	ENSP00000411911.1:n.-34A>C
ENST00000444573.1:c.267A>C	ENSP00000392603.1:p.Arg89Ser
ENST00000485882.1:n.101A>C
ENST00000488080.5:n.493A>C
NM_001025201.3:c.564A>C	NP_001020372.2:p.Arg188Ser
NM_001206602.1:c.267A>C	NP_001193531.1:p.Arg89Ser
NM_001822.5:c.642A>C	NP_001813.1:p.Arg214Ser
NR_038133.1:n.508A>C
NM_001025201.4:c.564A>C	NP_001020372.2:p.Arg188Ser
NM_001206602.2:c.267A>C	NP_001193531.1:p.Arg89Ser
NM_001371513.1:c.642A>C	NP_001358442.1:p.Arg214Ser
NM_001371514.1:c.693A>C	NP_001358443.1:p.Arg231Ser
NM_001822.7:c.642A>C MANE Select	NP_001813.1:p.Arg214Ser
NR_038133.2:n.510A>C