Canonical Allele Identifier: CA349342041

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664890C>G (hg19) ; chr2:g.174800162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800162C>G , CM000664.2:g.174800162C>G	GRCh38
NC_000002.11:g.175664890C>G , CM000664.1:g.175664890C>G	GRCh37
NC_000002.10:g.175373136C>G	NCBI36
NG_012642.1:g.210281G>C
NG_012642.2:g.210281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.959G>C	ENSP00000295497.7:p.Arg320Thr
ENST00000295497.12:c.959G>C	ENSP00000295497.7:p.Arg320Thr
ENST00000409900.9:c.1334G>C MANE Select	ENSP00000386741.4:p.Arg445Thr
ENST00000413882.6:c.788G>C	ENSP00000410496.2:p.Arg263Thr
ENST00000443238.6:c.812G>C	ENSP00000409798.2:p.Arg271Thr
ENST00000488080.6:n.977G>C
ENST00000650731.1:c.659G>C	ENSP00000499146.1:p.Arg220Thr
ENST00000650938.1:c.720G>C
ENST00000651246.1:c.926G>C	ENSP00000498484.1:p.Arg309Thr
ENST00000651501.1:c.*781G>C	ENSP00000498894.1:n.*781G>C
ENST00000651717.1:c.*610G>C	ENSP00000499124.1:n.*610G>C
ENST00000652036.1:c.1010G>C	ENSP00000499139.1:p.Arg337Thr
ENST00000295497.11:c.959G>C	ENSP00000295497.7:p.Arg320Thr
ENST00000409156.7:c.1256G>C	ENSP00000386470.3:p.Arg419Thr
ENST00000409597.5:c.782G>C	ENSP00000386469.1:p.Arg261Thr
ENST00000409900.7:c.1334G>C	ENSP00000386741.3:p.Arg445Thr
ENST00000488080.5:n.1185G>C
ENST00000492964.1:n.477G>C
NM_001025201.3:c.1256G>C	NP_001020372.2:p.Arg419Thr
NM_001206602.1:c.959G>C	NP_001193531.1:p.Arg320Thr
NM_001822.5:c.1334G>C	NP_001813.1:p.Arg445Thr
NR_038133.1:n.1200G>C
NM_001025201.4:c.1256G>C	NP_001020372.2:p.Arg419Thr
NM_001206602.2:c.959G>C	NP_001193531.1:p.Arg320Thr
NM_001371513.1:c.1334G>C	NP_001358442.1:p.Arg445Thr
NM_001371514.1:c.1385G>C	NP_001358443.1:p.Arg462Thr
NM_001822.7:c.1334G>C MANE Select	NP_001813.1:p.Arg445Thr
NR_038133.2:n.1202G>C