Canonical Allele Identifier: CA349342678

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665000T>G (hg19) ; chr2:g.174800272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800272T>G , CM000664.2:g.174800272T>G	GRCh38
NC_000002.11:g.175665000T>G , CM000664.1:g.175665000T>G	GRCh37
NC_000002.10:g.175373246T>G	NCBI36
NG_012642.1:g.210171A>C
NG_012642.2:g.210171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.849A>C	ENSP00000295497.7:p.Glu283Asp
ENST00000295497.12:c.849A>C	ENSP00000295497.7:p.Glu283Asp
ENST00000409089.7:c.600A>C	ENSP00000386322.3:p.Glu200Asp
ENST00000409900.9:c.1224A>C MANE Select	ENSP00000386741.4:p.Glu408Asp
ENST00000413882.6:c.678A>C	ENSP00000410496.2:p.Glu226Asp
ENST00000443238.6:c.702A>C	ENSP00000409798.2:p.Glu234Asp
ENST00000488080.6:n.867A>C
ENST00000650731.1:c.549A>C	ENSP00000499146.1:p.Glu183Asp
ENST00000650938.1:c.610A>C
ENST00000651246.1:c.816A>C	ENSP00000498484.1:p.Glu272Asp
ENST00000651501.1:c.*671A>C	ENSP00000498894.1:n.*671A>C
ENST00000651717.1:c.*500A>C	ENSP00000499124.1:n.*500A>C
ENST00000652036.1:c.900A>C	ENSP00000499139.1:p.Glu300Asp
ENST00000295497.11:c.849A>C	ENSP00000295497.7:p.Glu283Asp
ENST00000409156.7:c.1146A>C	ENSP00000386470.3:p.Glu382Asp
ENST00000409597.5:c.672A>C	ENSP00000386469.1:p.Glu224Asp
ENST00000409900.7:c.1224A>C	ENSP00000386741.3:p.Glu408Asp
ENST00000488080.5:n.1075A>C
ENST00000492964.1:n.367A>C
NM_001025201.3:c.1146A>C	NP_001020372.2:p.Glu382Asp
NM_001206602.1:c.849A>C	NP_001193531.1:p.Glu283Asp
NM_001822.5:c.1224A>C	NP_001813.1:p.Glu408Asp
NR_038133.1:n.1090A>C
NM_001025201.4:c.1146A>C	NP_001020372.2:p.Glu382Asp
NM_001206602.2:c.849A>C	NP_001193531.1:p.Glu283Asp
NM_001371513.1:c.1224A>C	NP_001358442.1:p.Glu408Asp
NM_001371514.1:c.1275A>C	NP_001358443.1:p.Glu425Asp
NM_001822.7:c.1224A>C MANE Select	NP_001813.1:p.Glu408Asp
NR_038133.2:n.1092A>C