Canonical Allele Identifier: CA430017400

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665015T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800287T>C , CM000664.2:g.174800287T>C	GRCh38
NC_000002.11:g.175665015T>C , CM000664.1:g.175665015T>C	GRCh37
NC_000002.10:g.175373261T>C	NCBI36
NG_012642.1:g.210156A>G
NG_012642.2:g.210156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834A>G	ENSP00000295497.7:p.Arg278=
ENST00000444394.7:c.963A>G	ENSP00000411911.2:p.Arg321=
ENST00000295497.12:c.834A>G	ENSP00000295497.7:p.Arg278=
ENST00000409089.7:c.585A>G	ENSP00000386322.3:p.Arg195=
ENST00000409900.9:c.1209A>G MANE Select	ENSP00000386741.4:p.Arg403=
ENST00000413882.6:c.663A>G	ENSP00000410496.2:p.Arg221=
ENST00000443238.6:c.687A>G	ENSP00000409798.2:p.Arg229=
ENST00000444394.6:c.963A>G	ENSP00000411911.2:p.Arg321=
ENST00000488080.6:n.852A>G
ENST00000650731.1:c.534A>G	ENSP00000499146.1:p.Arg178=
ENST00000650938.1:c.595A>G
ENST00000651246.1:c.801A>G	ENSP00000498484.1:p.Arg267=
ENST00000651501.1:c.*656A>G	ENSP00000498894.1:n.*656A>G
ENST00000651717.1:c.*485A>G	ENSP00000499124.1:n.*485A>G
ENST00000652036.1:c.885A>G	ENSP00000499139.1:p.Arg295=
ENST00000295497.11:c.834A>G	ENSP00000295497.7:p.Arg278=
ENST00000409156.7:c.1131A>G	ENSP00000386470.3:p.Arg377=
ENST00000409597.5:c.657A>G	ENSP00000386469.1:p.Arg219=
ENST00000409900.7:c.1209A>G	ENSP00000386741.3:p.Arg403=
ENST00000488080.5:n.1060A>G
ENST00000492964.1:n.352A>G
NM_001025201.3:c.1131A>G	NP_001020372.2:p.Arg377=
NM_001206602.1:c.834A>G	NP_001193531.1:p.Arg278=
NM_001822.5:c.1209A>G	NP_001813.1:p.Arg403=
NR_038133.1:n.1075A>G
NM_001025201.4:c.1131A>G	NP_001020372.2:p.Arg377=
NM_001206602.2:c.834A>G	NP_001193531.1:p.Arg278=
NM_001371513.1:c.1209A>G	NP_001358442.1:p.Arg403=
NM_001371514.1:c.1260A>G	NP_001358443.1:p.Arg420=
NM_001822.7:c.1209A>G MANE Select	NP_001813.1:p.Arg403=
NR_038133.2:n.1077A>G