Canonical Allele Identifier: CA349341950

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664872A>C (hg19) ; chr2:g.174800144A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800144A>C , CM000664.2:g.174800144A>C	GRCh38
NC_000002.11:g.175664872A>C , CM000664.1:g.175664872A>C	GRCh37
NC_000002.10:g.175373118A>C	NCBI36
NG_012642.1:g.210299T>G
NG_012642.2:g.210299T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.977T>G	ENSP00000295497.7:p.Leu326Arg
ENST00000295497.12:c.977T>G	ENSP00000295497.7:p.Leu326Arg
ENST00000409900.9:c.1352T>G MANE Select	ENSP00000386741.4:p.Leu451Arg
ENST00000413882.6:c.806T>G	ENSP00000410496.2:p.Leu269Arg
ENST00000443238.6:c.830T>G	ENSP00000409798.2:p.Leu277Arg
ENST00000488080.6:n.995T>G
ENST00000650731.1:c.677T>G	ENSP00000499146.1:p.Leu226Arg
ENST00000650938.1:c.738T>G
ENST00000651246.1:c.944T>G	ENSP00000498484.1:p.Leu315Arg
ENST00000651501.1:c.*799T>G	ENSP00000498894.1:n.*799T>G
ENST00000651717.1:c.*628T>G	ENSP00000499124.1:n.*628T>G
ENST00000652036.1:c.1028T>G	ENSP00000499139.1:p.Leu343Arg
ENST00000295497.11:c.977T>G	ENSP00000295497.7:p.Leu326Arg
ENST00000409156.7:c.1274T>G	ENSP00000386470.3:p.Leu425Arg
ENST00000409597.5:c.800T>G	ENSP00000386469.1:p.Leu267Arg
ENST00000409900.7:c.1352T>G	ENSP00000386741.3:p.Leu451Arg
ENST00000488080.5:n.1203T>G
ENST00000492964.1:n.495T>G
NM_001025201.3:c.1274T>G	NP_001020372.2:p.Leu425Arg
NM_001206602.1:c.977T>G	NP_001193531.1:p.Leu326Arg
NM_001822.5:c.1352T>G	NP_001813.1:p.Leu451Arg
NR_038133.1:n.1218T>G
NM_001025201.4:c.1274T>G	NP_001020372.2:p.Leu425Arg
NM_001206602.2:c.977T>G	NP_001193531.1:p.Leu326Arg
NM_001371513.1:c.1352T>G	NP_001358442.1:p.Leu451Arg
NM_001371514.1:c.1403T>G	NP_001358443.1:p.Leu468Arg
NM_001822.7:c.1352T>G MANE Select	NP_001813.1:p.Leu451Arg
NR_038133.2:n.1220T>G