Canonical Allele Identifier: CA349689570

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175742648A>C (hg19) ; chr2:g.174877920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174877920A>C , CM000664.2:g.174877920A>C	GRCh38
NC_000002.11:g.175742648A>C , CM000664.1:g.175742648A>C	GRCh37
NC_000002.10:g.175450894A>C	NCBI36
NG_012642.1:g.132523T>G
NG_012642.2:g.132523T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.469T>G MANE Select	ENSP00000386741.4:p.Tyr157Asp
ENST00000425395.6:c.105-30963T>G	ENSP00000405270.2:n.105-30963T>G
ENST00000444573.2:c.313T>G	ENSP00000392603.2:p.Tyr105Asp
ENST00000451799.2:c.313T>G	ENSP00000416316.2:p.Tyr105Asp
ENST00000469597.2:c.*117T>G	ENSP00000498417.1:n.*117T>G
ENST00000488080.6:n.115-2055T>G
ENST00000650734.1:c.*369T>G	ENSP00000498742.1:n.*369T>G
ENST00000650770.1:c.*383T>G	ENSP00000499036.1:n.*383T>G
ENST00000651063.1:n.520T>G
ENST00000651246.1:c.61T>G	ENSP00000498484.1:p.Tyr21Asp
ENST00000651315.1:c.61T>G	ENSP00000498692.1:p.Tyr21Asp
ENST00000651373.1:c.61T>G	ENSP00000499174.1:p.Tyr21Asp
ENST00000651501.1:c.105-30963T>G	ENSP00000498894.1:n.105-30963T>G
ENST00000651580.1:c.313T>G	ENSP00000498631.1:p.Tyr105Asp
ENST00000651599.1:c.313T>G	ENSP00000498535.1:p.Tyr105Asp
ENST00000651803.1:c.*383T>G	ENSP00000499007.1:n.*383T>G
ENST00000651971.1:c.*269T>G	ENSP00000499035.1:n.*269T>G
ENST00000652154.1:n.445T>G
ENST00000652208.1:c.313T>G	ENSP00000498475.1:p.Tyr105Asp
ENST00000652434.1:c.430T>G	ENSP00000498549.1:p.Tyr144Asp
ENST00000652437.1:n.612T>G
ENST00000652674.1:c.61T>G	ENSP00000498599.1:p.Tyr21Asp
ENST00000652734.1:n.366T>G
ENST00000652756.1:c.313T>G	ENSP00000498281.1:p.Tyr105Asp
ENST00000652768.1:n.361T>G
ENST00000409156.7:c.469T>G	ENSP00000386470.3:p.Tyr157Asp
ENST00000409900.7:c.469T>G	ENSP00000386741.3:p.Tyr157Asp
ENST00000425395.5:c.*101-30963T>G	ENSP00000405270.1:n.*101-30963T>G
ENST00000469597.1:n.574T>G
ENST00000481174.1:n.22T>G
ENST00000488080.5:n.401-30963T>G
ENST00000490654.1:n.444T>G
NM_001025201.3:c.469T>G	NP_001020372.2:p.Tyr157Asp
NM_001822.5:c.469T>G	NP_001813.1:p.Tyr157Asp
NR_038133.1:n.416-30963T>G
NM_001025201.4:c.469T>G	NP_001020372.2:p.Tyr157Asp
NM_001371513.1:c.469T>G	NP_001358442.1:p.Tyr157Asp
NM_001371514.1:c.520T>G	NP_001358443.1:p.Tyr174Asp
NM_001822.7:c.469T>G MANE Select	NP_001813.1:p.Tyr157Asp
NR_038133.2:n.418-30963T>G