Canonical Allele Identifier: CA349342207

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664920A>C (hg19) ; chr2:g.174800192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800192A>C , CM000664.2:g.174800192A>C	GRCh38
NC_000002.11:g.175664920A>C , CM000664.1:g.175664920A>C	GRCh37
NC_000002.10:g.175373166A>C	NCBI36
NG_012642.1:g.210251T>G
NG_012642.2:g.210251T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.929T>G	ENSP00000295497.7:p.Met310Arg
ENST00000295497.12:c.929T>G	ENSP00000295497.7:p.Met310Arg
ENST00000409900.9:c.1304T>G MANE Select	ENSP00000386741.4:p.Met435Arg
ENST00000413882.6:c.758T>G	ENSP00000410496.2:p.Met253Arg
ENST00000443238.6:c.782T>G	ENSP00000409798.2:p.Met261Arg
ENST00000488080.6:n.947T>G
ENST00000650731.1:c.629T>G	ENSP00000499146.1:p.Met210Arg
ENST00000650938.1:c.690T>G
ENST00000651246.1:c.896T>G	ENSP00000498484.1:p.Met299Arg
ENST00000651501.1:c.*751T>G	ENSP00000498894.1:n.*751T>G
ENST00000651717.1:c.*580T>G	ENSP00000499124.1:n.*580T>G
ENST00000652036.1:c.980T>G	ENSP00000499139.1:p.Met327Arg
ENST00000295497.11:c.929T>G	ENSP00000295497.7:p.Met310Arg
ENST00000409156.7:c.1226T>G	ENSP00000386470.3:p.Met409Arg
ENST00000409597.5:c.752T>G	ENSP00000386469.1:p.Met251Arg
ENST00000409900.7:c.1304T>G	ENSP00000386741.3:p.Met435Arg
ENST00000488080.5:n.1155T>G
ENST00000492964.1:n.447T>G
NM_001025201.3:c.1226T>G	NP_001020372.2:p.Met409Arg
NM_001206602.1:c.929T>G	NP_001193531.1:p.Met310Arg
NM_001822.5:c.1304T>G	NP_001813.1:p.Met435Arg
NR_038133.1:n.1170T>G
NM_001025201.4:c.1226T>G	NP_001020372.2:p.Met409Arg
NM_001206602.2:c.929T>G	NP_001193531.1:p.Met310Arg
NM_001371513.1:c.1304T>G	NP_001358442.1:p.Met435Arg
NM_001371514.1:c.1355T>G	NP_001358443.1:p.Met452Arg
NM_001822.7:c.1304T>G MANE Select	NP_001813.1:p.Met435Arg
NR_038133.2:n.1172T>G