Canonical Allele Identifier: CA430300488

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175742646G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174877918G>A , CM000664.2:g.174877918G>A	GRCh38
NC_000002.11:g.175742646G>A , CM000664.1:g.175742646G>A	GRCh37
NC_000002.10:g.175450892G>A	NCBI36
NG_012642.1:g.132525C>T
NG_012642.2:g.132525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.471C>T MANE Select	ENSP00000386741.4:p.Tyr157=
ENST00000425395.6:c.105-30961C>T	ENSP00000405270.2:n.105-30961C>T
ENST00000444573.2:c.315C>T	ENSP00000392603.2:p.Tyr105=
ENST00000451799.2:c.315C>T	ENSP00000416316.2:p.Tyr105=
ENST00000469597.2:c.*119C>T	ENSP00000498417.1:n.*119C>T
ENST00000488080.6:n.115-2053C>T
ENST00000650734.1:c.*371C>T	ENSP00000498742.1:n.*371C>T
ENST00000650770.1:c.*385C>T	ENSP00000499036.1:n.*385C>T
ENST00000651063.1:n.522C>T
ENST00000651246.1:c.63C>T	ENSP00000498484.1:p.Tyr21=
ENST00000651315.1:c.63C>T	ENSP00000498692.1:p.Tyr21=
ENST00000651373.1:c.63C>T	ENSP00000499174.1:p.Tyr21=
ENST00000651501.1:c.105-30961C>T	ENSP00000498894.1:n.105-30961C>T
ENST00000651580.1:c.315C>T	ENSP00000498631.1:p.Tyr105=
ENST00000651599.1:c.315C>T	ENSP00000498535.1:p.Tyr105=
ENST00000651803.1:c.*385C>T	ENSP00000499007.1:n.*385C>T
ENST00000651971.1:c.*271C>T	ENSP00000499035.1:n.*271C>T
ENST00000652154.1:n.447C>T
ENST00000652208.1:c.315C>T	ENSP00000498475.1:p.Tyr105=
ENST00000652434.1:c.432C>T	ENSP00000498549.1:p.Tyr144=
ENST00000652437.1:n.614C>T
ENST00000652674.1:c.63C>T	ENSP00000498599.1:p.Tyr21=
ENST00000652734.1:n.368C>T
ENST00000652756.1:c.315C>T	ENSP00000498281.1:p.Tyr105=
ENST00000652768.1:n.363C>T
ENST00000409156.7:c.471C>T	ENSP00000386470.3:p.Tyr157=
ENST00000409900.7:c.471C>T	ENSP00000386741.3:p.Tyr157=
ENST00000425395.5:c.*101-30961C>T	ENSP00000405270.1:n.*101-30961C>T
ENST00000469597.1:n.576C>T
ENST00000481174.1:n.24C>T
ENST00000488080.5:n.401-30961C>T
ENST00000490654.1:n.446C>T
NM_001025201.3:c.471C>T	NP_001020372.2:p.Tyr157=
NM_001822.5:c.471C>T	NP_001813.1:p.Tyr157=
NR_038133.1:n.416-30961C>T
NM_001025201.4:c.471C>T	NP_001020372.2:p.Tyr157=
NM_001371513.1:c.471C>T	NP_001358442.1:p.Tyr157=
NM_001371514.1:c.522C>T	NP_001358443.1:p.Tyr174=
NM_001822.7:c.471C>T MANE Select	NP_001813.1:p.Tyr157=
NR_038133.2:n.418-30961C>T