Canonical Allele Identifier: CA349347800

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689203T>G (hg19) ; chr2:g.174824475T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824475T>G , CM000664.2:g.174824475T>G	GRCh38
NC_000002.11:g.175689203T>G , CM000664.1:g.175689203T>G	GRCh37
NC_000002.10:g.175397449T>G	NCBI36
NG_012642.1:g.185968A>C
NG_012642.2:g.185968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.296A>C	ENSP00000295497.7:p.Asn99Thr
ENST00000444394.7:c.296A>C	ENSP00000411911.2:p.Asn99Thr
ENST00000295497.12:c.296A>C	ENSP00000295497.7:p.Asn99Thr
ENST00000409089.7:c.-5A>C	ENSP00000386322.3:n.-5A>C
ENST00000409900.9:c.671A>C MANE Select	ENSP00000386741.4:p.Asn224Thr
ENST00000413882.6:c.125A>C	ENSP00000410496.2:p.Asn42Thr
ENST00000425395.6:c.*118A>C	ENSP00000405270.2:n.*118A>C
ENST00000443238.6:c.149A>C	ENSP00000409798.2:p.Asn50Thr
ENST00000444394.6:c.296A>C	ENSP00000411911.2:p.Asn99Thr
ENST00000444573.2:c.515A>C	ENSP00000392603.2:p.Asn172Thr
ENST00000488080.6:n.314A>C
ENST00000650731.1:c.-5A>C	ENSP00000499146.1:n.-5A>C
ENST00000650938.1:c.195A>C
ENST00000651246.1:c.263A>C	ENSP00000498484.1:p.Asn88Thr
ENST00000651373.1:c.185A>C	ENSP00000499174.1:p.Asn62Thr
ENST00000651501.1:c.*118A>C	ENSP00000498894.1:n.*118A>C
ENST00000651717.1:c.253-11993A>C	ENSP00000499124.1:n.253-11993A>C
ENST00000652036.1:c.296A>C	ENSP00000499139.1:p.Asn99Thr
ENST00000652154.1:n.569A>C
ENST00000295497.11:c.296A>C	ENSP00000295497.7:p.Asn99Thr
ENST00000409089.6:c.-5A>C	ENSP00000386322.2:n.-5A>C
ENST00000409156.7:c.593A>C	ENSP00000386470.3:p.Asn198Thr
ENST00000409597.5:c.119A>C	ENSP00000386469.1:p.Asn40Thr
ENST00000409900.7:c.671A>C	ENSP00000386741.3:p.Asn224Thr
ENST00000413882.5:c.125A>C	ENSP00000410496.1:p.Asn42Thr
ENST00000425395.5:c.*222A>C	ENSP00000405270.1:n.*222A>C
ENST00000443238.5:c.149A>C	ENSP00000409798.1:p.Asn50Thr
ENST00000444394.5:c.-5A>C	ENSP00000411911.1:n.-5A>C
ENST00000444573.1:c.296A>C	ENSP00000392603.1:p.Asn99Thr
ENST00000485882.1:n.130A>C
ENST00000488080.5:n.522A>C
NM_001025201.3:c.593A>C	NP_001020372.2:p.Asn198Thr
NM_001206602.1:c.296A>C	NP_001193531.1:p.Asn99Thr
NM_001822.5:c.671A>C	NP_001813.1:p.Asn224Thr
NR_038133.1:n.537A>C
NM_001025201.4:c.593A>C	NP_001020372.2:p.Asn198Thr
NM_001206602.2:c.296A>C	NP_001193531.1:p.Asn99Thr
NM_001371513.1:c.671A>C	NP_001358442.1:p.Asn224Thr
NM_001371514.1:c.722A>C	NP_001358443.1:p.Asn241Thr
NM_001822.7:c.671A>C MANE Select	NP_001813.1:p.Asn224Thr
NR_038133.2:n.539A>C