Canonical Allele Identifier: CA349342312

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664942T>C (hg19) ; chr2:g.174800214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800214T>C , CM000664.2:g.174800214T>C	GRCh38
NC_000002.11:g.175664942T>C , CM000664.1:g.175664942T>C	GRCh37
NC_000002.10:g.175373188T>C	NCBI36
NG_012642.1:g.210229A>G
NG_012642.2:g.210229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.907A>G	ENSP00000295497.7:p.Arg303Gly
ENST00000295497.12:c.907A>G	ENSP00000295497.7:p.Arg303Gly
ENST00000409900.9:c.1282A>G MANE Select	ENSP00000386741.4:p.Arg428Gly
ENST00000413882.6:c.736A>G	ENSP00000410496.2:p.Arg246Gly
ENST00000443238.6:c.760A>G	ENSP00000409798.2:p.Arg254Gly
ENST00000488080.6:n.925A>G
ENST00000650731.1:c.607A>G	ENSP00000499146.1:p.Arg203Gly
ENST00000650938.1:c.668A>G
ENST00000651246.1:c.874A>G	ENSP00000498484.1:p.Arg292Gly
ENST00000651501.1:c.*729A>G	ENSP00000498894.1:n.*729A>G
ENST00000651717.1:c.*558A>G	ENSP00000499124.1:n.*558A>G
ENST00000652036.1:c.958A>G	ENSP00000499139.1:p.Arg320Gly
ENST00000295497.11:c.907A>G	ENSP00000295497.7:p.Arg303Gly
ENST00000409156.7:c.1204A>G	ENSP00000386470.3:p.Arg402Gly
ENST00000409597.5:c.730A>G	ENSP00000386469.1:p.Arg244Gly
ENST00000409900.7:c.1282A>G	ENSP00000386741.3:p.Arg428Gly
ENST00000488080.5:n.1133A>G
ENST00000492964.1:n.425A>G
NM_001025201.3:c.1204A>G	NP_001020372.2:p.Arg402Gly
NM_001206602.1:c.907A>G	NP_001193531.1:p.Arg303Gly
NM_001822.5:c.1282A>G	NP_001813.1:p.Arg428Gly
NR_038133.1:n.1148A>G
NM_001025201.4:c.1204A>G	NP_001020372.2:p.Arg402Gly
NM_001206602.2:c.907A>G	NP_001193531.1:p.Arg303Gly
NM_001371513.1:c.1282A>G	NP_001358442.1:p.Arg428Gly
NM_001371514.1:c.1333A>G	NP_001358443.1:p.Arg445Gly
NM_001822.7:c.1282A>G MANE Select	NP_001813.1:p.Arg428Gly
NR_038133.2:n.1150A>G