Canonical Allele Identifier: CA349347934

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689234T>A (hg19) ; chr2:g.174824506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824506T>A , CM000664.2:g.174824506T>A	GRCh38
NC_000002.11:g.175689234T>A , CM000664.1:g.175689234T>A	GRCh37
NC_000002.10:g.175397480T>A	NCBI36
NG_012642.1:g.185937A>T
NG_012642.2:g.185937A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.265A>T	ENSP00000295497.7:p.Arg89Ter
ENST00000444394.7:c.265A>T	ENSP00000411911.2:p.Arg89Ter
ENST00000295497.12:c.265A>T	ENSP00000295497.7:p.Arg89Ter
ENST00000409089.7:c.-36A>T	ENSP00000386322.3:n.-36A>T
ENST00000409900.9:c.640A>T MANE Select	ENSP00000386741.4:p.Arg214Ter
ENST00000413882.6:c.94A>T	ENSP00000410496.2:p.Arg32Ter
ENST00000425395.6:c.*87A>T	ENSP00000405270.2:n.*87A>T
ENST00000443238.6:c.118A>T	ENSP00000409798.2:p.Arg40Ter
ENST00000444394.6:c.265A>T	ENSP00000411911.2:p.Arg89Ter
ENST00000444573.2:c.484A>T	ENSP00000392603.2:p.Arg162Ter
ENST00000451799.2:c.484A>T	ENSP00000416316.2:p.Arg162Ter
ENST00000469597.2:c.*288A>T	ENSP00000498417.1:n.*288A>T
ENST00000488080.6:n.283A>T
ENST00000650731.1:c.-36A>T	ENSP00000499146.1:n.-36A>T
ENST00000650734.1:c.*540A>T	ENSP00000498742.1:n.*540A>T
ENST00000650770.1:c.*554A>T	ENSP00000499036.1:n.*554A>T
ENST00000650938.1:c.164A>T
ENST00000651246.1:c.232A>T	ENSP00000498484.1:p.Arg78Ter
ENST00000651315.1:c.232A>T	ENSP00000498692.1:p.Arg78Ter
ENST00000651373.1:c.154A>T	ENSP00000499174.1:p.Arg52Ter
ENST00000651501.1:c.*87A>T	ENSP00000498894.1:n.*87A>T
ENST00000651580.1:c.*219A>T	ENSP00000498631.1:n.*219A>T
ENST00000651599.1:c.*124A>T	ENSP00000498535.1:n.*124A>T
ENST00000651717.1:c.253-12024A>T	ENSP00000499124.1:n.253-12024A>T
ENST00000651803.1:c.*632A>T	ENSP00000499007.1:n.*632A>T
ENST00000651971.1:c.*440A>T	ENSP00000499035.1:n.*440A>T
ENST00000652036.1:c.265A>T	ENSP00000499139.1:p.Arg89Ter
ENST00000652154.1:n.538A>T
ENST00000652208.1:c.484A>T	ENSP00000498475.1:p.Arg162Ter
ENST00000652434.1:c.601A>T	ENSP00000498549.1:p.Arg201Ter
ENST00000652437.1:n.783A>T
ENST00000652674.1:c.*124A>T	ENSP00000498599.1:n.*124A>T
ENST00000652734.1:n.537A>T
ENST00000652756.1:c.484A>T	ENSP00000498281.1:p.Arg162Ter
ENST00000652768.1:n.532A>T
ENST00000295497.11:c.265A>T	ENSP00000295497.7:p.Arg89Ter
ENST00000409089.6:c.-36A>T	ENSP00000386322.2:n.-36A>T
ENST00000409156.7:c.562A>T	ENSP00000386470.3:p.Arg188Ter
ENST00000409597.5:c.88A>T	ENSP00000386469.1:p.Arg30Ter
ENST00000409900.7:c.640A>T	ENSP00000386741.3:p.Arg214Ter
ENST00000413882.5:c.94A>T	ENSP00000410496.1:p.Arg32Ter
ENST00000425395.5:c.*191A>T	ENSP00000405270.1:n.*191A>T
ENST00000443238.5:c.118A>T	ENSP00000409798.1:p.Arg40Ter
ENST00000444394.5:c.-36A>T	ENSP00000411911.1:n.-36A>T
ENST00000444573.1:c.265A>T	ENSP00000392603.1:p.Arg89Ter
ENST00000485882.1:n.99A>T
ENST00000488080.5:n.491A>T
NM_001025201.3:c.562A>T	NP_001020372.2:p.Arg188Ter
NM_001206602.1:c.265A>T	NP_001193531.1:p.Arg89Ter
NM_001822.5:c.640A>T	NP_001813.1:p.Arg214Ter
NR_038133.1:n.506A>T
NM_001025201.4:c.562A>T	NP_001020372.2:p.Arg188Ter
NM_001206602.2:c.265A>T	NP_001193531.1:p.Arg89Ter
NM_001371513.1:c.640A>T	NP_001358442.1:p.Arg214Ter
NM_001371514.1:c.691A>T	NP_001358443.1:p.Arg231Ter
NM_001822.7:c.640A>T MANE Select	NP_001813.1:p.Arg214Ter
NR_038133.2:n.508A>T