Canonical Allele Identifier: CA349347959

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689240T>G (hg19) ; chr2:g.174824512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824512T>G , CM000664.2:g.174824512T>G	GRCh38
NC_000002.11:g.175689240T>G , CM000664.1:g.175689240T>G	GRCh37
NC_000002.10:g.175397486T>G	NCBI36
NG_012642.1:g.185931A>C
NG_012642.2:g.185931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.259A>C	ENSP00000295497.7:p.Thr87Pro
ENST00000444394.7:c.259A>C	ENSP00000411911.2:p.Thr87Pro
ENST00000295497.12:c.259A>C	ENSP00000295497.7:p.Thr87Pro
ENST00000409089.7:c.-42A>C	ENSP00000386322.3:n.-42A>C
ENST00000409900.9:c.634A>C MANE Select	ENSP00000386741.4:p.Thr212Pro
ENST00000413882.6:c.88A>C	ENSP00000410496.2:p.Thr30Pro
ENST00000425395.6:c.*81A>C	ENSP00000405270.2:n.*81A>C
ENST00000443238.6:c.112A>C	ENSP00000409798.2:p.Thr38Pro
ENST00000444394.6:c.259A>C	ENSP00000411911.2:p.Thr87Pro
ENST00000444573.2:c.478A>C	ENSP00000392603.2:p.Thr160Pro
ENST00000451799.2:c.478A>C	ENSP00000416316.2:p.Thr160Pro
ENST00000469597.2:c.*282A>C	ENSP00000498417.1:n.*282A>C
ENST00000488080.6:n.277A>C
ENST00000650731.1:c.-42A>C	ENSP00000499146.1:n.-42A>C
ENST00000650734.1:c.*534A>C	ENSP00000498742.1:n.*534A>C
ENST00000650770.1:c.*548A>C	ENSP00000499036.1:n.*548A>C
ENST00000650938.1:c.158A>C
ENST00000651246.1:c.226A>C	ENSP00000498484.1:p.Thr76Pro
ENST00000651315.1:c.226A>C	ENSP00000498692.1:p.Thr76Pro
ENST00000651373.1:c.148A>C	ENSP00000499174.1:p.Thr50Pro
ENST00000651501.1:c.*81A>C	ENSP00000498894.1:n.*81A>C
ENST00000651580.1:c.*213A>C	ENSP00000498631.1:n.*213A>C
ENST00000651599.1:c.*118A>C	ENSP00000498535.1:n.*118A>C
ENST00000651717.1:c.253-12030A>C	ENSP00000499124.1:n.253-12030A>C
ENST00000651803.1:c.*626A>C	ENSP00000499007.1:n.*626A>C
ENST00000651971.1:c.*434A>C	ENSP00000499035.1:n.*434A>C
ENST00000652036.1:c.259A>C	ENSP00000499139.1:p.Thr87Pro
ENST00000652154.1:n.532A>C
ENST00000652208.1:c.478A>C	ENSP00000498475.1:p.Thr160Pro
ENST00000652434.1:c.595A>C	ENSP00000498549.1:p.Thr199Pro
ENST00000652437.1:n.777A>C
ENST00000652674.1:c.*118A>C	ENSP00000498599.1:n.*118A>C
ENST00000652734.1:n.531A>C
ENST00000652756.1:c.478A>C	ENSP00000498281.1:p.Thr160Pro
ENST00000652768.1:n.526A>C
ENST00000295497.11:c.259A>C	ENSP00000295497.7:p.Thr87Pro
ENST00000409089.6:c.-42A>C	ENSP00000386322.2:n.-42A>C
ENST00000409156.7:c.556A>C	ENSP00000386470.3:p.Thr186Pro
ENST00000409597.5:c.82A>C	ENSP00000386469.1:p.Thr28Pro
ENST00000409900.7:c.634A>C	ENSP00000386741.3:p.Thr212Pro
ENST00000413882.5:c.88A>C	ENSP00000410496.1:p.Thr30Pro
ENST00000425395.5:c.*185A>C	ENSP00000405270.1:n.*185A>C
ENST00000443238.5:c.112A>C	ENSP00000409798.1:p.Thr38Pro
ENST00000444394.5:c.-42A>C	ENSP00000411911.1:n.-42A>C
ENST00000444573.1:c.259A>C	ENSP00000392603.1:p.Thr87Pro
ENST00000485882.1:n.93A>C
ENST00000488080.5:n.485A>C
NM_001025201.3:c.556A>C	NP_001020372.2:p.Thr186Pro
NM_001206602.1:c.259A>C	NP_001193531.1:p.Thr87Pro
NM_001822.5:c.634A>C	NP_001813.1:p.Thr212Pro
NR_038133.1:n.500A>C
NM_001025201.4:c.556A>C	NP_001020372.2:p.Thr186Pro
NM_001206602.2:c.259A>C	NP_001193531.1:p.Thr87Pro
NM_001371513.1:c.634A>C	NP_001358442.1:p.Thr212Pro
NM_001371514.1:c.685A>C	NP_001358443.1:p.Thr229Pro
NM_001822.7:c.634A>C MANE Select	NP_001813.1:p.Thr212Pro
NR_038133.2:n.502A>C